William Tapper

William Tapper

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William Tapper

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PRR14L mutations are associated with chromosome 22 acquired uniparental disomy, age-related clonal hematopoiesis and myeloid neoplasia.

Authors:
Andrew Chase Andrea Pellagatti Shalini Singh Joannah Score William J Tapper Feng Lin Yvette Hoade Catherine Bryant Nicola Trim Bon Ham Yip Katerina Zoi Chiara Rasi Lars A Forsberg Jan P Dumanski Jacqueline Boultwood Nicholas C P Cross

Leukemia 2019 May 20;33(5):1184-1194. Epub 2018 Dec 20.

Faculty of Medicine, University of Southampton, Southampton, UK.

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http://dx.doi.org/10.1038/s41375-018-0340-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6451636PMC
May 2019

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer.

Authors:
Manuel A Ferreira Eric R Gamazon Fares Al-Ejeh Kristiina Aittomäki Irene L Andrulis Hoda Anton-Culver Adalgeir Arason Volker Arndt Kristan J Aronson Banu K Arun Ella Asseryanis Jacopo Azzollini Judith Balmaña Daniel R Barnes Daniel Barrowdale Matthias W Beckmann Sabine Behrens Javier Benitez Marina Bermisheva Katarzyna Białkowska Carl Blomqvist Natalia V Bogdanova Stig E Bojesen Manjeet K Bolla Ake Borg Hiltrud Brauch Hermann Brenner Annegien Broeks Barbara Burwinkel Trinidad Caldés Maria A Caligo Daniele Campa Ian Campbell Federico Canzian Jonathan Carter Brian D Carter Jose E Castelao Jenny Chang-Claude Stephen J Chanock Hans Christiansen Wendy K Chung Kathleen B M Claes Christine L Clarke Fergus J Couch Angela Cox Simon S Cross Kamila Czene Mary B Daly Miguel de la Hoya Joe Dennis Peter Devilee Orland Diez Thilo Dörk Alison M Dunning Miriam Dwek Diana M Eccles Bent Ejlertsen Carolina Ellberg Christoph Engel Mikael Eriksson Peter A Fasching Olivia Fletcher Henrik Flyger Eitan Friedman Debra Frost Marike Gabrielson Manuela Gago-Dominguez Patricia A Ganz Susan M Gapstur Judy Garber Montserrat García-Closas José A García-Sáenz Mia M Gaudet Graham G Giles Gord Glendon Andrew K Godwin Mark S Goldberg David E Goldgar Anna González-Neira Mark H Greene Jacek Gronwald Pascal Guénel Christopher A Haiman Per Hall Ute Hamann Wei He Jane Heyworth Frans B L Hogervorst Antoinette Hollestelle Robert N Hoover John L Hopper Peter J Hulick Keith Humphreys Evgeny N Imyanitov Claudine Isaacs Milena Jakimovska Anna Jakubowska Paul A James Ramunas Janavicius Rachel C Jankowitz Esther M John Nichola Johnson Vijai Joseph Beth Y Karlan Elza Khusnutdinova Johanna I Kiiski Yon-Dschun Ko Michael E Jones Irene Konstantopoulou Vessela N Kristensen Yael Laitman Diether Lambrechts Conxi Lazaro Goska Leslie Jenny Lester Fabienne Lesueur Sara Lindström Jirong Long Jennifer T Loud Jan Lubiński Enes Makalic Arto Mannermaa Mehdi Manoochehri Sara Margolin Tabea Maurer Dimitrios Mavroudis Lesley McGuffog Alfons Meindl Usha Menon Kyriaki Michailidou Austin Miller Marco Montagna Fernando Moreno Lidia Moserle Anna Marie Mulligan Katherine L Nathanson Susan L Neuhausen Heli Nevanlinna Ines Nevelsteen Finn C Nielsen Liene Nikitina-Zake Robert L Nussbaum Kenneth Offit Edith Olah Olufunmilayo I Olopade Håkan Olsson Ana Osorio Janos Papp Tjoung-Won Park-Simon Michael T Parsons Inge Sokilde Pedersen Ana Peixoto Paolo Peterlongo Paul D P Pharoah Dijana Plaseska-Karanfilska Bruce Poppe Nadege Presneau Paolo Radice Johanna Rantala Gad Rennert Harvey A Risch Emmanouil Saloustros Kristin Sanden Elinor J Sawyer Marjanka K Schmidt Rita K Schmutzler Priyanka Sharma Xiao-Ou Shu Jacques Simard Christian F Singer Penny Soucy Melissa C Southey John J Spinelli Amanda B Spurdle Jennifer Stone Anthony J Swerdlow William J Tapper Jack A Taylor Manuel R Teixeira Mary Beth Terry Alex Teulé Mads Thomassen Kathrin Thöne Darcy L Thull Marc Tischkowitz Amanda E Toland Diana Torres Thérèse Truong Nadine Tung Celine M Vachon Christi J van Asperen Ans M W van den Ouweland Elizabeth J van Rensburg Ana Vega Alessandra Viel Qin Wang Barbara Wappenschmidt Jeffrey N Weitzel Camilla Wendt Robert Winqvist Xiaohong R Yang Drakoulis Yannoukakos Argyrios Ziogas Peter Kraft Antonis C Antoniou Wei Zheng Douglas F Easton Roger L Milne Jonathan Beesley Georgia Chenevix-Trench

Nat Commun 2019 04 15;10(1):1741. Epub 2019 Apr 15.

Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD, 4006, Australia.

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http://dx.doi.org/10.1038/s41467-018-08053-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465407PMC
April 2019

Genome-wide association study of germline variants and breast cancer-specific mortality.

Authors:
Maria Escala-Garcia Qi Guo Thilo Dörk Sander Canisius Renske Keeman Joe Dennis Jonathan Beesley Julie Lecarpentier Manjeet K Bolla Qin Wang Jean Abraham Irene L Andrulis Hoda Anton-Culver Volker Arndt Paul L Auer Matthias W Beckmann Sabine Behrens Javier Benitez Marina Bermisheva Leslie Bernstein Carl Blomqvist Bram Boeckx Stig E Bojesen Bernardo Bonanni Anne-Lise Børresen-Dale Hiltrud Brauch Hermann Brenner Adam Brentnall Louise Brinton Per Broberg Ian W Brock Sara Y Brucker Barbara Burwinkel Carlos Caldas Trinidad Caldés Daniele Campa Federico Canzian Angel Carracedo Brian D Carter Jose E Castelao Jenny Chang-Claude Stephen J Chanock Georgia Chenevix-Trench Ting-Yuan David Cheng Suet-Feung Chin Christine L Clarke Emilie Cordina-Duverger Fergus J Couch David G Cox Angela Cox Simon S Cross Kamila Czene Mary B Daly Peter Devilee Janet A Dunn Alison M Dunning Lorraine Durcan Miriam Dwek Helena M Earl Arif B Ekici A Heather Eliassen Carolina Ellberg Christoph Engel Mikael Eriksson D Gareth Evans Jonine Figueroa Dieter Flesch-Janys Henrik Flyger Marike Gabrielson Manuela Gago-Dominguez Eva Galle Susan M Gapstur Montserrat García-Closas José A García-Sáenz Mia M Gaudet Angela George Vassilios Georgoulias Graham G Giles Gord Glendon David E Goldgar Anna González-Neira Grethe I Grenaker Alnæs Mervi Grip Pascal Guénel Lothar Haeberle Eric Hahnen Christopher A Haiman Niclas Håkansson Per Hall Ute Hamann Susan Hankinson Elaine F Harkness Patricia A Harrington Steven N Hart Jaana M Hartikainen Alexander Hein Peter Hillemanns Louise Hiller Bernd Holleczek Antoinette Hollestelle Maartje J Hooning Robert N Hoover John L Hopper Anthony Howell Guanmengqian Huang Keith Humphreys David J Hunter Wolfgang Janni Esther M John Michael E Jones Arja Jukkola-Vuorinen Audrey Jung Rudolf Kaaks Maria Kabisch Katarzyna Kaczmarek Michael J Kerin Sofia Khan Elza Khusnutdinova Johanna I Kiiski Cari M Kitahara Julia A Knight Yon-Dschun Ko Linetta B Koppert Veli-Matti Kosma Peter Kraft Vessela N Kristensen Ute Krüger Tabea Kühl Diether Lambrechts Loic Le Marchand Eunjung Lee Flavio Lejbkowicz Lian Li Annika Lindblom Sara Lindström Martha Linet Jolanta Lissowska Wing-Yee Lo Sibylle Loibl Jan Lubiński Michael P Lux Robert J MacInnis Melanie Maierthaler Tom Maishman Enes Makalic Arto Mannermaa Mehdi Manoochehri Siranoush Manoukian Sara Margolin Maria Elena Martinez Dimitrios Mavroudis Catriona McLean Alfons Meindl Pooja Middha Nicola Miller Roger L Milne Fernando Moreno Anna Marie Mulligan Claire Mulot Rami Nassir Susan L Neuhausen William T Newman Sune F Nielsen Børge G Nordestgaard Aaron Norman Håkan Olsson Nick Orr V Shane Pankratz Tjoung-Won Park-Simon Jose I A Perez Clara Pérez-Barrios Paolo Peterlongo Christos Petridis Mila Pinchev Karoliona Prajzendanc Ross Prentice Nadege Presneau Darya Prokofieva Katri Pylkäs Brigitte Rack Paolo Radice Dhanya Ramachandran Gadi Rennert Hedy S Rennert Valerie Rhenius Atocha Romero Rebecca Roylance Emmanouil Saloustros Elinor J Sawyer Daniel F Schmidt Rita K Schmutzler Andreas Schneeweiss Minouk J Schoemaker Fredrick Schumacher Lukas Schwentner Rodney J Scott Christopher Scott Caroline Seynaeve Mitul Shah Jacques Simard Ann Smeets Christof Sohn Melissa C Southey Anthony J Swerdlow Aline Talhouk Rulla M Tamimi William J Tapper Manuel R Teixeira Maria Tengström Mary Beth Terry Kathrin Thöne Rob A E M Tollenaar Ian Tomlinson Diana Torres Thérèse Truong Constance Turman Clare Turnbull Hans-Ulrich Ulmer Michael Untch Celine Vachon Christi J van Asperen Ans M W van den Ouweland Elke M van Veen Camilla Wendt Alice S Whittemore Walter Willett Robert Winqvist Alicja Wolk Xiaohong R Yang Yan Zhang Douglas F Easton Peter A Fasching Heli Nevanlinna Diana M Eccles Paul D P Pharoah Marjanka K Schmidt

Br J Cancer 2019 Mar 21;120(6):647-657. Epub 2019 Feb 21.

The Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Division of Molecular Pathology, Amsterdam, The Netherlands.

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http://www.nature.com/articles/s41416-019-0393-x
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http://dx.doi.org/10.1038/s41416-019-0393-xDOI Listing
March 2019

Recurrent activating STAT5B N642H mutation in myeloid neoplasms with eosinophilia.

Authors:
Nicholas C P Cross Yvette Hoade William J Tapper Gonzalo Carreno-Tarragona Tiziana Fanelli Mohamad Jawhar Nicole Naumann Iwo Pieniak Johannes Lübke Sahra Ali Kaljit Bhuller Sonja Burgstaller Catherine Cargo Jamie Cavenagh Andrew S Duncombe Emma Das-Gupta Paul Evans Peter Forsyth Philip George Charlotte Grimley Fergus Jack Laura Munro Varun Mehra Kavita Patel Ali Rismani Gabriela Sciuccati Rowena Thomas-Dewing Patrick Thornton Andres Virchis Simon Watt Louise Wallis Alastair Whiteway Kris Zegocki Barbara J Bain Andreas Reiter Andrew Chase

Leukemia 2019 02 20;33(2):415-425. Epub 2018 Dec 20.

Faculty of Medicine, University of Southampton, Southampton, UK.

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http://www.nature.com/articles/s41375-018-0342-3
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http://dx.doi.org/10.1038/s41375-018-0342-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6365490PMC
February 2019

Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes.

Authors:
Nasim Mavaddat Kyriaki Michailidou Joe Dennis Michael Lush Laura Fachal Andrew Lee Jonathan P Tyrer Ting-Huei Chen Qin Wang Manjeet K Bolla Xin Yang Muriel A Adank Thomas Ahearn Kristiina Aittomäki Jamie Allen Irene L Andrulis Hoda Anton-Culver Natalia N Antonenkova Volker Arndt Kristan J Aronson Paul L Auer Päivi Auvinen Myrto Barrdahl Laura E Beane Freeman Matthias W Beckmann Sabine Behrens Javier Benitez Marina Bermisheva Leslie Bernstein Carl Blomqvist Natalia V Bogdanova Stig E Bojesen Bernardo Bonanni Anne-Lise Børresen-Dale Hiltrud Brauch Michael Bremer Hermann Brenner Adam Brentnall Ian W Brock Angela Brooks-Wilson Sara Y Brucker Thomas Brüning Barbara Burwinkel Daniele Campa Brian D Carter Jose E Castelao Stephen J Chanock Rowan Chlebowski Hans Christiansen Christine L Clarke J Margriet Collée Emilie Cordina-Duverger Sten Cornelissen Fergus J Couch Angela Cox Simon S Cross Kamila Czene Mary B Daly Peter Devilee Thilo Dörk Isabel Dos-Santos-Silva Martine Dumont Lorraine Durcan Miriam Dwek Diana M Eccles Arif B Ekici A Heather Eliassen Carolina Ellberg Christoph Engel Mikael Eriksson D Gareth Evans Peter A Fasching Jonine Figueroa Olivia Fletcher Henrik Flyger Asta Försti Lin Fritschi Marike Gabrielson Manuela Gago-Dominguez Susan M Gapstur José A García-Sáenz Mia M Gaudet Vassilios Georgoulias Graham G Giles Irina R Gilyazova Gord Glendon Mark S Goldberg David E Goldgar Anna González-Neira Grethe I Grenaker Alnæs Mervi Grip Jacek Gronwald Anne Grundy Pascal Guénel Lothar Haeberle Eric Hahnen Christopher A Haiman Niclas Håkansson Ute Hamann Susan E Hankinson Elaine F Harkness Steven N Hart Wei He Alexander Hein Jane Heyworth Peter Hillemanns Antoinette Hollestelle Maartje J Hooning Robert N Hoover John L Hopper Anthony Howell Guanmengqian Huang Keith Humphreys David J Hunter Milena Jakimovska Anna Jakubowska Wolfgang Janni Esther M John Nichola Johnson Michael E Jones Arja Jukkola-Vuorinen Audrey Jung Rudolf Kaaks Katarzyna Kaczmarek Vesa Kataja Renske Keeman Michael J Kerin Elza Khusnutdinova Johanna I Kiiski Julia A Knight Yon-Dschun Ko Veli-Matti Kosma Stella Koutros Vessela N Kristensen Ute Krüger Tabea Kühl Diether Lambrechts Loic Le Marchand Eunjung Lee Flavio Lejbkowicz Jenna Lilyquist Annika Lindblom Sara Lindström Jolanta Lissowska Wing-Yee Lo Sibylle Loibl Jirong Long Jan Lubiński Michael P Lux Robert J MacInnis Tom Maishman Enes Makalic Ivana Maleva Kostovska Arto Mannermaa Siranoush Manoukian Sara Margolin John W M Martens Maria Elena Martinez Dimitrios Mavroudis Catriona McLean Alfons Meindl Usha Menon Pooja Middha Nicola Miller Fernando Moreno Anna Marie Mulligan Claire Mulot Victor M Muñoz-Garzon Susan L Neuhausen Heli Nevanlinna Patrick Neven William G Newman Sune F Nielsen Børge G Nordestgaard Aaron Norman Kenneth Offit Janet E Olson Håkan Olsson Nick Orr V Shane Pankratz Tjoung-Won Park-Simon Jose I A Perez Clara Pérez-Barrios Paolo Peterlongo Julian Peto Mila Pinchev Dijana Plaseska-Karanfilska Eric C Polley Ross Prentice Nadege Presneau Darya Prokofyeva Kristen Purrington Katri Pylkäs Brigitte Rack Paolo Radice Rohini Rau-Murthy Gad Rennert Hedy S Rennert Valerie Rhenius Mark Robson Atocha Romero Kathryn J Ruddy Matthias Ruebner Emmanouil Saloustros Dale P Sandler Elinor J Sawyer Daniel F Schmidt Rita K Schmutzler Andreas Schneeweiss Minouk J Schoemaker Fredrick Schumacher Peter Schürmann Lukas Schwentner Christopher Scott Rodney J Scott Caroline Seynaeve Mitul Shah Mark E Sherman Martha J Shrubsole Xiao-Ou Shu Susan Slager Ann Smeets Christof Sohn Penny Soucy Melissa C Southey John J Spinelli Christa Stegmaier Jennifer Stone Anthony J Swerdlow Rulla M Tamimi William J Tapper Jack A Taylor Mary Beth Terry Kathrin Thöne Rob A E M Tollenaar Ian Tomlinson Thérèse Truong Maria Tzardi Hans-Ulrich Ulmer Michael Untch Celine M Vachon Elke M van Veen Joseph Vijai Clarice R Weinberg Camilla Wendt Alice S Whittemore Hans Wildiers Walter Willett Robert Winqvist Alicja Wolk Xiaohong R Yang Drakoulis Yannoukakos Yan Zhang Wei Zheng Argyrios Ziogas Alison M Dunning Deborah J Thompson Georgia Chenevix-Trench Jenny Chang-Claude Marjanka K Schmidt Per Hall Roger L Milne Paul D P Pharoah Antonis C Antoniou Nilanjan Chatterjee Peter Kraft Montserrat García-Closas Jacques Simard Douglas F Easton

Am J Hum Genet 2019 Jan 13;104(1):21-34. Epub 2018 Dec 13.

Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK; Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK.

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183040
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http://dx.doi.org/10.1016/j.ajhg.2018.11.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323553PMC
January 2019

Analysis of Mutation and Loss of Heterozygosity by Whole-Exome Sequencing Yields Insights into Pseudomyxoma Peritonei.

Authors:
Reuben J Pengelly Babatunde Rowaiye Karen Pickard Brendan Moran Sanjeev Dayal William Tapper Alex Mirnezami Tom Cecil Faheez Mohamed Norman Carr Sarah Ennis

J Mol Diagn 2018 09 22;20(5):635-642. Epub 2018 Jun 22.

Department of Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, United Kingdom.

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https://linkinghub.elsevier.com/retrieve/pii/S15251578173052
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http://dx.doi.org/10.1016/j.jmoldx.2018.05.002DOI Listing
September 2018

A Novel PCM1-PDGFRB Fusion in a Patient with a Chronic Myeloproliferative Neoplasm and an ins(8;5).

Authors:
Muna Ghazzawi Varun Mehra Marcin Knut Loretta Brown William Tapper Andrew Chase Hugues de Lavallade Nicholas C P Cross

Acta Haematol 2017;138(4):198-200. Epub 2017 Nov 24.

Faculty of Medicine, University of Southampton, Southampton, UK.

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https://www.karger.com/Article/FullText/484077
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http://dx.doi.org/10.1159/000484077DOI Listing
July 2018

A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer.

Authors:
Lang Wu Wei Shi Jirong Long Xingyi Guo Kyriaki Michailidou Jonathan Beesley Manjeet K Bolla Xiao-Ou Shu Yingchang Lu Qiuyin Cai Fares Al-Ejeh Esdy Rozali Qin Wang Joe Dennis Bingshan Li Chenjie Zeng Helian Feng Alexander Gusev Richard T Barfield Irene L Andrulis Hoda Anton-Culver Volker Arndt Kristan J Aronson Paul L Auer Myrto Barrdahl Caroline Baynes Matthias W Beckmann Javier Benitez Marina Bermisheva Carl Blomqvist Natalia V Bogdanova Stig E Bojesen Hiltrud Brauch Hermann Brenner Louise Brinton Per Broberg Sara Y Brucker Barbara Burwinkel Trinidad Caldés Federico Canzian Brian D Carter J Esteban Castelao Jenny Chang-Claude Xiaoqing Chen Ting-Yuan David Cheng Hans Christiansen Christine L Clarke Margriet Collée Sten Cornelissen Fergus J Couch David Cox Angela Cox Simon S Cross Julie M Cunningham Kamila Czene Mary B Daly Peter Devilee Kimberly F Doheny Thilo Dörk Isabel Dos-Santos-Silva Martine Dumont Miriam Dwek Diana M Eccles Ursula Eilber A Heather Eliassen Christoph Engel Mikael Eriksson Laura Fachal Peter A Fasching Jonine Figueroa Dieter Flesch-Janys Olivia Fletcher Henrik Flyger Lin Fritschi Marike Gabrielson Manuela Gago-Dominguez Susan M Gapstur Montserrat García-Closas Mia M Gaudet Maya Ghoussaini Graham G Giles Mark S Goldberg David E Goldgar Anna González-Neira Pascal Guénel Eric Hahnen Christopher A Haiman Niclas Håkansson Per Hall Emily Hallberg Ute Hamann Patricia Harrington Alexander Hein Belynda Hicks Peter Hillemanns Antoinette Hollestelle Robert N Hoover John L Hopper Guanmengqian Huang Keith Humphreys David J Hunter Anna Jakubowska Wolfgang Janni Esther M John Nichola Johnson Kristine Jones Michael E Jones Audrey Jung Rudolf Kaaks Michael J Kerin Elza Khusnutdinova Veli-Matti Kosma Vessela N Kristensen Diether Lambrechts Loic Le Marchand Jingmei Li Sara Lindström Jolanta Lissowska Wing-Yee Lo Sibylle Loibl Jan Lubinski Craig Luccarini Michael P Lux Robert J MacInnis Tom Maishman Ivana Maleva Kostovska Arto Mannermaa JoAnn E Manson Sara Margolin Dimitrios Mavroudis Hanne Meijers-Heijboer Alfons Meindl Usha Menon Jeffery Meyer Anna Marie Mulligan Susan L Neuhausen Heli Nevanlinna Patrick Neven Sune F Nielsen Børge G Nordestgaard Olufunmilayo I Olopade Janet E Olson Håkan Olsson Paolo Peterlongo Julian Peto Dijana Plaseska-Karanfilska Ross Prentice Nadege Presneau Katri Pylkäs Brigitte Rack Paolo Radice Nazneen Rahman Gad Rennert Hedy S Rennert Valerie Rhenius Atocha Romero Jane Romm Anja Rudolph Emmanouil Saloustros Dale P Sandler Elinor J Sawyer Marjanka K Schmidt Rita K Schmutzler Andreas Schneeweiss Rodney J Scott Christopher G Scott Sheila Seal Mitul Shah Martha J Shrubsole Ann Smeets Melissa C Southey John J Spinelli Jennifer Stone Harald Surowy Anthony J Swerdlow Rulla M Tamimi William Tapper Jack A Taylor Mary Beth Terry Daniel C Tessier Abigail Thomas Kathrin Thöne Rob A E M Tollenaar Diana Torres Thérèse Truong Michael Untch Celine Vachon David Van Den Berg Daniel Vincent Quinten Waisfisz Clarice R Weinberg Camilla Wendt Alice S Whittemore Hans Wildiers Walter C Willett Robert Winqvist Alicja Wolk Lucy Xia Xiaohong R Yang Argyrios Ziogas Elad Ziv Alison M Dunning Paul D P Pharoah Jacques Simard Roger L Milne Stacey L Edwards Peter Kraft Douglas F Easton Georgia Chenevix-Trench Wei Zheng

Nat Genet 2018 07 18;50(7):968-978. Epub 2018 Jun 18.

Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, USA.

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http://dx.doi.org/10.1038/s41588-018-0132-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6314198PMC
July 2018

Meta-analysis of three genome-wide association studies identifies two loci that predict survival and treatment outcome in breast cancer.

Authors:
Sofia Khan Rainer Fagerholm Latha Kadalayil William Tapper Kristiina Aittomäki Jianjun Liu Carl Blomqvist Diana Eccles Heli Nevanlinna

Oncotarget 2018 Jan 28;9(3):4249-4257. Epub 2017 Nov 28.

Department of Obstetrics and Gynaecology, University of Helsinki and Helsinki University Hospital, Biomedicum, Helsinki, Finland.

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http://dx.doi.org/10.18632/oncotarget.22747DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5790536PMC
January 2018

Germline variation in ADAMTSL1 is associated with prognosis following breast cancer treatment in young women.

Authors:
Latha Kadalayil Sofia Khan Heli Nevanlinna Peter A Fasching Fergus J Couch John L Hopper Jianjun Liu Tom Maishman Lorraine Durcan Sue Gerty Carl Blomqvist Brigitte Rack Wolfgang Janni Andrew Collins Diana Eccles William Tapper

Nat Commun 2017 11 21;8(1):1632. Epub 2017 Nov 21.

Genetic Epidemiology and Bioinformatics Research Group, Human Development and Health Academic Unit, Faculty of Medicine, Duthie Building (MP 808), University of Southampton, Southampton General Hospital, Southampton, SO16 6YD, UK.

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http://dx.doi.org/10.1038/s41467-017-01775-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5696339PMC
November 2017

Type C TP53-CDKN1A pathway dysfunction occurs independently of CDKN1A gene polymorphisms in chronic lymphocytic leukaemia and is associated with TP53 abnormalities.

Authors:
Ian Tracy William Tapper Anton Parker Anne Gardiner Shalal Sadullah Guy Pratt Adrian Copplestone David Oscier Oliver Giles Best

Br J Haematol 2017 09 13;178(5):824-826. Epub 2016 Jun 13.

Department of Molecular Pathology, Royal Bournemouth Hospital, Bournemouth, Dorset, UK.

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http://dx.doi.org/10.1111/bjh.14172DOI Listing
September 2017

PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS.

Authors:
Melissa C Southey David E Goldgar Robert Winqvist Katri Pylkäs Fergus Couch Marc Tischkowitz William D Foulkes Joe Dennis Kyriaki Michailidou Elizabeth J van Rensburg Tuomas Heikkinen Heli Nevanlinna John L Hopper Thilo Dörk Kathleen Bm Claes Jorge Reis-Filho Zhi Ling Teo Paolo Radice Irene Catucci Paolo Peterlongo Helen Tsimiklis Fabrice A Odefrey James G Dowty Marjanka K Schmidt Annegien Broeks Frans B Hogervorst Senno Verhoef Jane Carpenter Christine Clarke Rodney J Scott Peter A Fasching Lothar Haeberle Arif B Ekici Matthias W Beckmann Julian Peto Isabel Dos-Santos-Silva Olivia Fletcher Nichola Johnson Manjeet K Bolla Elinor J Sawyer Ian Tomlinson Michael J Kerin Nicola Miller Federik Marme Barbara Burwinkel Rongxi Yang Pascal Guénel Thérèse Truong Florence Menegaux Marie Sanchez Stig Bojesen Sune F Nielsen Henrik Flyger Javier Benitez M Pilar Zamora Jose Ignacio Arias Perez Primitiva Menéndez Hoda Anton-Culver Susan Neuhausen Argyrios Ziogas Christina A Clarke Hermann Brenner Volker Arndt Christa Stegmaier Hiltrud Brauch Thomas Brüning Yon-Dschun Ko Taru A Muranen Kristiina Aittomäki Carl Blomqvist Natalia V Bogdanova Natalia N Antonenkova Annika Lindblom Sara Margolin Arto Mannermaa Vesa Kataja Veli-Matti Kosma Jaana M Hartikainen Amanda B Spurdle kConFab Investigators Els Wauters Dominiek Smeets Benoit Beuselinck Giuseppe Floris Jenny Chang-Claude Anja Rudolph Petra Seibold Dieter Flesch-Janys Janet E Olson Celine Vachon Vernon S Pankratz Catriona McLean Christopher A Haiman Brian E Henderson Fredrick Schumacher Loic Le Marchand Vessela Kristensen Grethe Grenaker Alnæs Wei Zheng David J Hunter Sara Lindstrom Susan E Hankinson Peter Kraft Irene Andrulis Julia A Knight Gord Glendon Anna Marie Mulligan Arja Jukkola-Vuorinen Mervi Grip Saila Kauppila Peter Devilee Robert A E M Tollenaar Caroline Seynaeve Antoinette Hollestelle Montserrat Garcia-Closas Jonine Figueroa Stephen J Chanock Jolanta Lissowska Kamila Czene Hatef Darabi Mikael Eriksson Diana M Eccles Sajjad Rafiq William J Tapper Sue M Gerty Maartje J Hooning John W M Martens J Margriet Collée Madeleine Tilanus-Linthorst Per Hall Jingmei Li Judith S Brand Keith Humphreys Angela Cox Malcolm W R Reed Craig Luccarini Caroline Baynes Alison M Dunning Ute Hamann Diana Torres Hans Ulrich Ulmer Thomas Rüdiger Anna Jakubowska Jan Lubinski Katarzyna Jaworska Katarzyna Durda Susan Slager Amanda E Toland Christine B Ambrosone Drakoulis Yannoukakos Anthony Swerdlow Alan Ashworth Nick Orr Michael Jones Anna González-Neira Guillermo Pita M Rosario Alonso Nuria Álvarez Daniel Herrero Daniel C Tessier Daniel Vincent Francois Bacot Jacques Simard Martine Dumont Penny Soucy Rosalind Eeles Kenneth Muir Fredrik Wiklund Henrik Gronberg Johanna Schleutker Børge G Nordestgaard Maren Weischer Ruth C Travis David Neal Jenny L Donovan Freddie C Hamdy Kay-Tee Khaw Janet L Stanford William J Blot Stephen Thibodeau Daniel J Schaid Joseph L Kelley Christiane Maier Adam S Kibel Cezary Cybulski Lisa Cannon-Albright Katja Butterbach Jong Park Radka Kaneva Jyotsna Batra Manuel R Teixeira Zsofia Kote-Jarai Ali Amin Al Olama Sara Benlloch Stefan P Renner Arndt Hartmann Alexander Hein Matthias Ruebner Diether Lambrechts Els Van Nieuwenhuysen Ignace Vergote Sandrina Lambretchs Jennifer A Doherty Mary Anne Rossing Stefan Nickels Ursula Eilber Shan Wang-Gohrke Kunle Odunsi Lara E Sucheston-Campbell Grace Friel Galina Lurie Jeffrey L Killeen Lynne R Wilkens Marc T Goodman Ingo Runnebaum Peter A Hillemanns Liisa M Pelttari Ralf Butzow Francesmary Modugno Robert P Edwards Roberta B Ness Kirsten B Moysich Andreas du Bois Florian Heitz Philipp Harter Stefan Kommoss Beth Y Karlan Christine Walsh Jenny Lester Allan Jensen Susanne Krüger Kjaer Estrid Høgdall Bernard Peissel Bernardo Bonanni Loris Bernard Ellen L Goode Brooke L Fridley Robert A Vierkant Julie M Cunningham Melissa C Larson Zachary C Fogarty Kimberly R Kalli Dong Liang Karen H Lu Michelle A T Hildebrandt Xifeng Wu Douglas A Levine Fanny Dao Maria Bisogna Andrew Berchuck Edwin S Iversen Jeffrey R Marks Lucy Akushevich Daniel W Cramer Joellen Schildkraut Kathryn L Terry Elizabeth M Poole Meir Stampfer Shelley S Tworoger Elisa V Bandera Irene Orlow Sara H Olson Line Bjorge Helga B Salvesen Anne M van Altena Katja K H Aben Lambertus A Kiemeney Leon F A G Massuger Tanja Pejovic Yukie Bean Angela Brooks-Wilson Linda E Kelemen Linda S Cook Nhu D Le Bohdan Górski Jacek Gronwald Janusz Menkiszak Claus K Høgdall Lene Lundvall Lotte Nedergaard Svend Aage Engelholm Ed Dicks Jonathan Tyrer Ian Campbell Iain McNeish James Paul Nadeem Siddiqui Rosalind Glasspool Alice S Whittemore Joseph H Rothstein Valerie McGuire Weiva Sieh Hui Cai Xiao-Ou Shu Rachel T Teten Rebecca Sutphen John R McLaughlin Steven A Narod Catherine M Phelan Alvaro N Monteiro David Fenstermacher Hui-Yi Lin Jennifer B Permuth Thomas A Sellers Y Ann Chen Ya-Yu Tsai Zhihua Chen Aleksandra Gentry-Maharaj Simon A Gayther Susan J Ramus Usha Menon Anna H Wu Celeste L Pearce David Van Den Berg Malcolm C Pike Agnieszka Dansonka-Mieszkowska Joanna Plisiecka-Halasa Joanna Moes-Sosnowska Jolanta Kupryjanczyk Paul Dp Pharoah Honglin Song Ingrid Winship Georgia Chenevix-Trench Graham G Giles Sean V Tavtigian Doug F Easton Roger L Milne

J Med Genet 2016 12 5;53(12):800-811. Epub 2016 Sep 5.

Centre for Epidemiology and Biostatistics, School of Population and Global Health, The University of Melbourne, Melbourne, Australia.

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December 2016

Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer.

Authors:
Fergus J Couch Karoline B Kuchenbaecker Kyriaki Michailidou Gustavo A Mendoza-Fandino Silje Nord Janna Lilyquist Curtis Olswold Emily Hallberg Simona Agata Habibul Ahsan Kristiina Aittomäki Christine Ambrosone Irene L Andrulis Hoda Anton-Culver Volker Arndt Banu K Arun Brita Arver Monica Barile Rosa B Barkardottir Daniel Barrowdale Lars Beckmann Matthias W Beckmann Javier Benitez Stephanie V Blank Carl Blomqvist Natalia V Bogdanova Stig E Bojesen Manjeet K Bolla Bernardo Bonanni Hiltrud Brauch Hermann Brenner Barbara Burwinkel Saundra S Buys Trinidad Caldes Maria A Caligo Federico Canzian Jane Carpenter Jenny Chang-Claude Stephen J Chanock Wendy K Chung Kathleen B M Claes Angela Cox Simon S Cross Julie M Cunningham Kamila Czene Mary B Daly Francesca Damiola Hatef Darabi Miguel de la Hoya Peter Devilee Orland Diez Yuan C Ding Riccardo Dolcetti Susan M Domchek Cecilia M Dorfling Isabel Dos-Santos-Silva Martine Dumont Alison M Dunning Diana M Eccles Hans Ehrencrona Arif B Ekici Heather Eliassen Steve Ellis Peter A Fasching Jonine Figueroa Dieter Flesch-Janys Asta Försti Florentia Fostira William D Foulkes Tara Friebel Eitan Friedman Debra Frost Marike Gabrielson Marilie D Gammon Patricia A Ganz Susan M Gapstur Judy Garber Mia M Gaudet Simon A Gayther Anne-Marie Gerdes Maya Ghoussaini Graham G Giles Gord Glendon Andrew K Godwin Mark S Goldberg David E Goldgar Anna González-Neira Mark H Greene Jacek Gronwald Pascal Guénel Marc Gunter Lothar Haeberle Christopher A Haiman Ute Hamann Thomas V O Hansen Steven Hart Sue Healey Tuomas Heikkinen Brian E Henderson Josef Herzog Frans B L Hogervorst Antoinette Hollestelle Maartje J Hooning Robert N Hoover John L Hopper Keith Humphreys David J Hunter Tomasz Huzarski Evgeny N Imyanitov Claudine Isaacs Anna Jakubowska Paul James Ramunas Janavicius Uffe Birk Jensen Esther M John Michael Jones Maria Kabisch Siddhartha Kar Beth Y Karlan Sofia Khan Kay-Tee Khaw Muhammad G Kibriya Julia A Knight Yon-Dschun Ko Irene Konstantopoulou Veli-Matti Kosma Vessela Kristensen Ava Kwong Yael Laitman Diether Lambrechts Conxi Lazaro Eunjung Lee Loic Le Marchand Jenny Lester Annika Lindblom Noralane Lindor Sara Lindstrom Jianjun Liu Jirong Long Jan Lubinski Phuong L Mai Enes Makalic Kathleen E Malone Arto Mannermaa Siranoush Manoukian Sara Margolin Frederik Marme John W M Martens Lesley McGuffog Alfons Meindl Austin Miller Roger L Milne Penelope Miron Marco Montagna Sylvie Mazoyer Anna M Mulligan Taru A Muranen Katherine L Nathanson Susan L Neuhausen Heli Nevanlinna Børge G Nordestgaard Robert L Nussbaum Kenneth Offit Edith Olah Olufunmilayo I Olopade Janet E Olson Ana Osorio Sue K Park Petra H Peeters Bernard Peissel Paolo Peterlongo Julian Peto Catherine M Phelan Robert Pilarski Bruce Poppe Katri Pylkäs Paolo Radice Nazneen Rahman Johanna Rantala Christine Rappaport Gad Rennert Andrea Richardson Mark Robson Isabelle Romieu Anja Rudolph Emiel J Rutgers Maria-Jose Sanchez Regina M Santella Elinor J Sawyer Daniel F Schmidt Marjanka K Schmidt Rita K Schmutzler Fredrick Schumacher Rodney Scott Leigha Senter Priyanka Sharma Jacques Simard Christian F Singer Olga M Sinilnikova Penny Soucy Melissa Southey Doris Steinemann Marie Stenmark-Askmalm Dominique Stoppa-Lyonnet Anthony Swerdlow Csilla I Szabo Rulla Tamimi William Tapper Manuel R Teixeira Soo-Hwang Teo Mary B Terry Mads Thomassen Deborah Thompson Laima Tihomirova Amanda E Toland Robert A E M Tollenaar Ian Tomlinson Thérèse Truong Helen Tsimiklis Alex Teulé Rosario Tumino Nadine Tung Clare Turnbull Giski Ursin Carolien H M van Deurzen Elizabeth J van Rensburg Raymonda Varon-Mateeva Zhaoming Wang Shan Wang-Gohrke Elisabete Weiderpass Jeffrey N Weitzel Alice Whittemore Hans Wildiers Robert Winqvist Xiaohong R Yang Drakoulis Yannoukakos Song Yao M Pilar Zamora Wei Zheng Per Hall Peter Kraft Celine Vachon Susan Slager Georgia Chenevix-Trench Paul D P Pharoah Alvaro A N Monteiro Montserrat García-Closas Douglas F Easton Antonis C Antoniou

Nat Commun 2016 04 27;7:11375. Epub 2016 Apr 27.

Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4853421PMC
April 2016

A genome wide meta-analysis study for identification of common variation associated with breast cancer prognosis.

Authors:
Sajjad Rafiq Sofia Khan William Tapper Andrew Collins Rosanna Upstill-Goddard Susan Gerty Carl Blomqvist Kristiina Aittomäki Fergus J Couch Jianjun Liu Heli Nevanlinna Diana Eccles

PLoS One 2014 19;9(12):e101488. Epub 2014 Dec 19.

Cancer Sciences Division, University of Southampton, School of Medicine, Southampton General Hospital, Hants, United Kingdom.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4272267PMC
December 2015

Polymorphism at 19q13.41 Predicts Breast Cancer Survival Specifically after Endocrine Therapy.

Authors:
Sofia Khan Rainer Fagerholm Sajjad Rafiq William Tapper Kristiina Aittomäki Jianjun Liu Carl Blomqvist Diana Eccles Heli Nevanlinna

Clin Cancer Res 2015 Sep 11;21(18):4086-4096. Epub 2015 May 11.

Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

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http://dx.doi.org/10.1158/1078-0432.CCR-15-0296DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4574404PMC
September 2015

Whole genome sequences are required to fully resolve the linkage disequilibrium structure of human populations.

Authors:
Reuben J Pengelly William Tapper Jane Gibson Marcin Knut Rick Tearle Andrew Collins Sarah Ennis

BMC Genomics 2015 Sep 3;16:666. Epub 2015 Sep 3.

Human Genetics & Genomic Medicine, Faculty of Medicine, University of Southampton, Duthie Building (MP 808), Tremona Road, Southampton, SO16 6YD, UK.

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http://dx.doi.org/10.1186/s12864-015-1854-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4558963PMC
September 2015

Exome sequence read depth methods for identifying copy number changes.

Authors:
Latha Kadalayil Sajjad Rafiq Matthew J J Rose-Zerilli Reuben J Pengelly Helen Parker David Oscier Jonathan C Strefford William J Tapper Jane Gibson Sarah Ennis Andrew Collins

Brief Bioinform 2015 May 28;16(3):380-92. Epub 2014 Aug 28.

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May 2015

Prediction of breast cancer risk based on profiling with common genetic variants.

Authors:
Nasim Mavaddat Paul D P Pharoah Kyriaki Michailidou Jonathan Tyrer Mark N Brook Manjeet K Bolla Qin Wang Joe Dennis Alison M Dunning Mitul Shah Robert Luben Judith Brown Stig E Bojesen Børge G Nordestgaard Sune F Nielsen Henrik Flyger Kamila Czene Hatef Darabi Mikael Eriksson Julian Peto Isabel Dos-Santos-Silva Frank Dudbridge Nichola Johnson Marjanka K Schmidt Annegien Broeks Senno Verhoef Emiel J Rutgers Anthony Swerdlow Alan Ashworth Nick Orr Minouk J Schoemaker Jonine Figueroa Stephen J Chanock Louise Brinton Jolanta Lissowska Fergus J Couch Janet E Olson Celine Vachon Vernon S Pankratz Diether Lambrechts Hans Wildiers Chantal Van Ongeval Erik van Limbergen Vessela Kristensen Grethe Grenaker Alnæs Silje Nord Anne-Lise Borresen-Dale Heli Nevanlinna Taru A Muranen Kristiina Aittomäki Carl Blomqvist Jenny Chang-Claude Anja Rudolph Petra Seibold Dieter Flesch-Janys Peter A Fasching Lothar Haeberle Arif B Ekici Matthias W Beckmann Barbara Burwinkel Frederik Marme Andreas Schneeweiss Christof Sohn Amy Trentham-Dietz Polly Newcomb Linda Titus Kathleen M Egan David J Hunter Sara Lindstrom Rulla M Tamimi Peter Kraft Nazneen Rahman Clare Turnbull Anthony Renwick Sheila Seal Jingmei Li Jianjun Liu Keith Humphreys Javier Benitez M Pilar Zamora Jose Ignacio Arias Perez Primitiva Menéndez Anna Jakubowska Jan Lubinski Katarzyna Jaworska-Bieniek Katarzyna Durda Natalia V Bogdanova Natalia N Antonenkova Thilo Dörk Hoda Anton-Culver Susan L Neuhausen Argyrios Ziogas Leslie Bernstein Peter Devilee Robert A E M Tollenaar Caroline Seynaeve Christi J van Asperen Angela Cox Simon S Cross Malcolm W R Reed Elza Khusnutdinova Marina Bermisheva Darya Prokofyeva Zalina Takhirova Alfons Meindl Rita K Schmutzler Christian Sutter Rongxi Yang Peter Schürmann Michael Bremer Hans Christiansen Tjoung-Won Park-Simon Peter Hillemanns Pascal Guénel Thérèse Truong Florence Menegaux Marie Sanchez Paolo Radice Paolo Peterlongo Siranoush Manoukian Valeria Pensotti John L Hopper Helen Tsimiklis Carmel Apicella Melissa C Southey Hiltrud Brauch Thomas Brüning Yon-Dschun Ko Alice J Sigurdson Michele M Doody Ute Hamann Diana Torres Hans-Ulrich Ulmer Asta Försti Elinor J Sawyer Ian Tomlinson Michael J Kerin Nicola Miller Irene L Andrulis Julia A Knight Gord Glendon Anna Marie Mulligan Georgia Chenevix-Trench Rosemary Balleine Graham G Giles Roger L Milne Catriona McLean Annika Lindblom Sara Margolin Christopher A Haiman Brian E Henderson Fredrick Schumacher Loic Le Marchand Ursula Eilber Shan Wang-Gohrke Maartje J Hooning Antoinette Hollestelle Ans M W van den Ouweland Linetta B Koppert Jane Carpenter Christine Clarke Rodney Scott Arto Mannermaa Vesa Kataja Veli-Matti Kosma Jaana M Hartikainen Hermann Brenner Volker Arndt Christa Stegmaier Aida Karina Dieffenbach Robert Winqvist Katri Pylkäs Arja Jukkola-Vuorinen Mervi Grip Kenneth Offit Joseph Vijai Mark Robson Rohini Rau-Murthy Miriam Dwek Ruth Swann Katherine Annie Perkins Mark S Goldberg France Labrèche Martine Dumont Diana M Eccles William J Tapper Sajjad Rafiq Esther M John Alice S Whittemore Susan Slager Drakoulis Yannoukakos Amanda E Toland Song Yao Wei Zheng Sandra L Halverson Anna González-Neira Guillermo Pita M Rosario Alonso Nuria Álvarez Daniel Herrero Daniel C Tessier Daniel Vincent Francois Bacot Craig Luccarini Caroline Baynes Shahana Ahmed Mel Maranian Catherine S Healey Jacques Simard Per Hall Douglas F Easton Montserrat Garcia-Closas

J Natl Cancer Inst 2015 May 8;107(5). Epub 2015 Apr 8.

Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK (NM, PDPP, KM, MKB, QW, JD, RL, JBr, DFE); Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK (PDPP, JT, AMD, MS, CL, CB, SA, MM, CSH, DFE); Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK (MNB, ASw, MJS); Copenhagen General Population Study, Herlev Hospital, Copenhagen University Hospital, Copenhagen, Denmark (SEB, BGN, SFN); Department of Clinical Biochemistry, Herlev Hospital, Copenhagen University Hospital, Copenhagen, Herlev, Denmark (SEB, BGN, SFN); Faculty of Health and Medical Sciences, Copenhagen University Hospital, Copenhagen, Herlev, Denmark (SEB, BGN); Department of Breast Surgery, Herlev Hospital, Copenhagen University Hospital, Copenhagen, Herlev, Denmark (HF); Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden (KC, HD, ME, KH, PHa); Department of Non-communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine, London, UK (JP, IdSS, FD); Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, UK (NJ, AA, NO, MGC); Netherlands Cancer Institute, Antoni van Leeuwenhoek hospital, Amsterdam, the Netherlands (MKS, AB, SV, EJR); Division of Breast Cancer Research, Institute of Cancer Research, London, UK (ASw); Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD (JF, SJC, LB, ASi, MD); Department of Cancer Epidemiology and Prevention, M. Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Warsaw, Poland (JLis); Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN (FJC); Department of Health Sciences Research, Mayo Clinic, Rochester, MN (JEO, CV, VSP, SS); Vesalius Research Center, VIB, Leuven, Belgium (DL); Laboratory for Translational Genetics, Department of Oncology, University of

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May 2015

Quantifying the cumulative effect of low-penetrance genetic variants on breast cancer risk.

Authors:
Conor Smyth Iva Špakulová Owen Cotton-Barratt Sajjad Rafiq William Tapper Rosanna Upstill-Goddard John L Hopper Enes Makalic Daniel F Schmidt Miroslav Kapuscinski Jörg Fliege Andrew Collins Jacek Brodzki Diana M Eccles Ben D MacArthur

Mol Genet Genomic Med 2015 May 14;3(3):182-8. Epub 2015 Jan 14.

Mathematical Sciences, University of Southampton Southampton, SO17 1BJ, United Kingdom ; Human Development and Health, Faculty of Medicine, University of Southampton Tremona Road, Southampton, SO16 6YA, United Kingdom ; Institute for Life Sciences, University of Southampton Southampton, SO17 1BJ, United Kingdom.

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http://dx.doi.org/10.1002/mgg3.129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4444159PMC
May 2015

The SNP rs6500843 in 16p13.3 is associated with survival specifically among chemotherapy-treated breast cancer patients.

Authors:
Rainer Fagerholm Marjanka K Schmidt Sofia Khan Sajjad Rafiq William Tapper Kristiina Aittomäki Dario Greco Tuomas Heikkinen Taru A Muranen Peter A Fasching Wolfgang Janni Richard Weinshilboum Christian R Loehberg John L Hopper Melissa C Southey Renske Keeman Annika Lindblom Sara Margolin Arto Mannermaa Vesa Kataja Georgia Chenevix-Trench Diether Lambrechts Hans Wildiers Jenny Chang-Claude Petra Seibold Fergus J Couch Janet E Olson Irene L Andrulis Julia A Knight Montserrat García-Closas Jonine Figueroa Maartje J Hooning Agnes Jager Mitul Shah Barbara J Perkins Robert Luben Ute Hamann Maria Kabisch Kamila Czene Per Hall Douglas F Easton Paul D P Pharoah Jianjun Liu Diana Eccles Carl Blomqvist Heli Nevanlinna

Oncotarget 2015 Apr;6(10):7390-407

Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

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http://dx.doi.org/10.18632/oncotarget.3506DOI Listing
April 2015

Genetic variation at MECOM, TERT, JAK2 and HBS1L-MYB predisposes to myeloproliferative neoplasms.

Authors:
William Tapper Amy V Jones Robert Kralovics Ashot S Harutyunyan Katerina Zoi William Leung Anna L Godfrey Paola Guglielmelli Alison Callaway Daniel Ward Paula Aranaz Helen E White Katherine Waghorn Feng Lin Andrew Chase E Joanna Baxter Cathy Maclean Jyoti Nangalia Edwin Chen Paul Evans Michael Short Andrew Jack Louise Wallis David Oscier Andrew S Duncombe Anna Schuh Adam J Mead Michael Griffiths Joanne Ewing Rosemary E Gale Susanne Schnittger Torsten Haferlach Frank Stegelmann Konstanze Döhner Harald Grallert Konstantin Strauch Toshiko Tanaka Stefania Bandinelli Andreas Giannopoulos Lisa Pieri Carmela Mannarelli Heinz Gisslinger Giovanni Barosi Mario Cazzola Andreas Reiter Claire Harrison Peter Campbell Anthony R Green Alessandro Vannucchi Nicholas C P Cross

Nat Commun 2015 Apr 7;6:6691. Epub 2015 Apr 7.

1] Faculty of Medicine, University of Southampton, Southampton SO16 6YD, UK [2] Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury SP2 8BJ, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4396373PMC
April 2015

Limited duration of complete remission on ruxolitinib in myeloid neoplasms with PCM1-JAK2 and BCR-JAK2 fusion genes.

Authors:
Juliana Schwaab Marcin Knut Claudia Haferlach Georgia Metzgeroth Hans-Peter Horny Andrew Chase William Tapper Joannah Score Katherine Waghorn Nicole Naumann Mohamad Jawhar Alice Fabarius Wolf-Karsten Hofmann Nicholas C P Cross Andreas Reiter

Ann Hematol 2015 Feb 27;94(2):233-8. Epub 2014 Sep 27.

III. Medizinische Klinik, Universitätsmedizin Mannheim, Theodor-Kutzer-Ufer 1-3, 68167, Mannheim, Germany.

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February 2015

Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.

Authors:
Fergus J Couch Steven N Hart Priyanka Sharma Amanda Ewart Toland Xianshu Wang Penelope Miron Janet E Olson Andrew K Godwin V Shane Pankratz Curtis Olswold Seth Slettedahl Emily Hallberg Lucia Guidugli Jaime I Davila Matthias W Beckmann Wolfgang Janni Brigitte Rack Arif B Ekici Dennis J Slamon Irene Konstantopoulou Florentia Fostira Athanassios Vratimos George Fountzilas Liisa M Pelttari William J Tapper Lorraine Durcan Simon S Cross Robert Pilarski Charles L Shapiro Jennifer Klemp Song Yao Judy Garber Angela Cox Hiltrud Brauch Christine Ambrosone Heli Nevanlinna Drakoulis Yannoukakos Susan L Slager Celine M Vachon Diana M Eccles Peter A Fasching

J Clin Oncol 2015 Feb 1;33(4):304-11. Epub 2014 Dec 1.

Fergus J. Couch, Steven N. Hart, Xianshu Wang, Janet E. Olson, Vernon S. Pankratz, Curtis Olswold, Seth Slettedahl, Emily Hallberg, Lucia Guidugli, Jaime Davila, Susan L. Slager, and Celine M. Vachon, Mayo Clinic, Rochester, MN; Priyanka Sharma, Andrew K. Godwin, and Jennifer Klemp, University of Kansas Medical Center, Kansas City, KS; Amanda Ewart Toland, Robert Pilarski, and Charles L. Shapiro, Ohio State University, Columbus, OH; Penelope Miron and Judy Garber, Dana-Farber Cancer Institute, Boston, MA; Matthias W. Beckmann, Arif B. Ekici, and Peter A. Fasching, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen; Wolfgang Janni, University Hospital Ulm, Ulm; Brigitte Rack, Ludwig-Maximilians University Munich, Munich; Hiltrud Brauch, Margarete Fischer-Bosch Institute of Clinical Pharmacology, University of Tubingen, Stuttgart, and German Cancer Consortium and German Cancer Research Center, Heidelberg, Germany; Dennis J. Slamon and Peter A. Fasching, University of California, Los Angeles, Los Angeles, CA; Irene Konstantopoulou, Florentia Fostira, Athanassios Vratimos, and Drakoulis Yannoukakos, National Centre for Scientific Research "Demokritos," Athens; George Fountzilas, "Papageorgiou" Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece; Liisa M. Pelttari and Heli Nevanlinna, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland; William J. Tapper, Lorraine Durcan, and Diana M. Eccles, University of Southampton, Southampton; Simon S. Cross and Angela Cox, University of Sheffield, Sheffield, United Kingdom; and Song Yao and Christine Ambrosone, Roswell Park Cancer Institute, Buffalo, NY.

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http://jco.ascopubs.org/cgi/doi/10.1200/JCO.2014.57.1414
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4302212PMC
February 2015

Assessment of variation in immunosuppressive pathway genes reveals TGFBR2 to be associated with prognosis of estrogen receptor-negative breast cancer after chemotherapy.

Authors:
Jieping Lei Anja Rudolph Kirsten B Moysich Sajjad Rafiq Sabine Behrens Ellen L Goode Paul P D Pharoah Petra Seibold Peter A Fasching Irene L Andrulis Vessela N Kristensen Fergus J Couch Ute Hamann Maartje J Hooning Heli Nevanlinna Ursula Eilber Manjeet K Bolla Joe Dennis Qin Wang Annika Lindblom Arto Mannermaa Diether Lambrechts Montserrat García-Closas Per Hall Georgia Chenevix-Trench Mitul Shah Robert Luben Lothar Haeberle Arif B Ekici Matthias W Beckmann Julia A Knight Gord Glendon Sandrine Tchatchou Grethe I Grenaker Alnæs Anne-Lise Borresen-Dale Silje Nord Janet E Olson Emily Hallberg Celine Vachon Diana Torres Hans-Ulrich Ulmer Thomas Rüdiger Agnes Jager Carolien H M van Deurzen Madeleine M A Tilanus-Linthorst Taru A Muranen Kristiina Aittomäki Carl Blomqvist Sara Margolin Veli-Matti Kosma Jaana M Hartikainen Vesa Kataja Sigrid Hatse Hans Wildiers Ann Smeets Jonine Figueroa Stephen J Chanock Jolanta Lissowska Jingmei Li Keith Humphreys Kelly-Anne Phillips Sabine Linn Sten Cornelissen Sandra Alexandra J van den Broek Daehee Kang Ji-Yeob Choi Sue K Park Keun-Young Yoo Chia-Ni Hsiung Pei-Ei Wu Ming-Feng Hou Chen-Yang Shen Soo Hwang Teo Nur Aishah Mohd Taib Cheng Har Yip Gwo Fuang Ho Keitaro Matsuo Hidemi Ito Hiroji Iwata Kazuo Tajima Alison M Dunning Javier Benitez Kamila Czene Lara E Sucheston Tom Maishman William J Tapper Diana Eccles Douglas F Easton Marjanka K Schmidt Jenny Chang-Claude

Breast Cancer Res 2015 Feb 10;17:18. Epub 2015 Feb 10.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4374346PMC
February 2015

Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia.

Authors:
Amanda B Spurdle Fergus J Couch Michael T Parsons Lesley McGuffog Daniel Barrowdale Manjeet K Bolla Qin Wang Sue Healey Rita Schmutzler Barbara Wappenschmidt Kerstin Rhiem Eric Hahnen Christoph Engel Alfons Meindl Nina Ditsch Norbert Arnold Hansjoerg Plendl Dieter Niederacher Christian Sutter Shan Wang-Gohrke Doris Steinemann Sabine Preisler-Adams Karin Kast Raymonda Varon-Mateeva Steve Ellis Debra Frost Radka Platte Jo Perkins D Gareth Evans Louise Izatt Ros Eeles Julian Adlard Rosemarie Davidson Trevor Cole Giulietta Scuvera Siranoush Manoukian Bernardo Bonanni Frederique Mariette Stefano Fortuzzi Alessandra Viel Barbara Pasini Laura Papi Liliana Varesco Rosemary Balleine Katherine L Nathanson Susan M Domchek Kenneth Offitt Anna Jakubowska Noralane Lindor Mads Thomassen Uffe Birk Jensen Johanna Rantala Åke Borg Irene L Andrulis Alexander Miron Thomas V O Hansen Trinidad Caldes Susan L Neuhausen Amanda E Toland Heli Nevanlinna Marco Montagna Judy Garber Andrew K Godwin Ana Osorio Rachel E Factor Mary B Terry Timothy R Rebbeck Beth Y Karlan Melissa Southey Muhammad Usman Rashid Nadine Tung Paul D P Pharoah Fiona M Blows Alison M Dunning Elena Provenzano Per Hall Kamila Czene Marjanka K Schmidt Annegien Broeks Sten Cornelissen Senno Verhoef Peter A Fasching Matthias W Beckmann Arif B Ekici Dennis J Slamon Stig E Bojesen Børge G Nordestgaard Sune F Nielsen Henrik Flyger Jenny Chang-Claude Dieter Flesch-Janys Anja Rudolph Petra Seibold Kristiina Aittomäki Taru A Muranen Päivi Heikkilä Carl Blomqvist Jonine Figueroa Stephen J Chanock Louise Brinton Jolanta Lissowska Janet E Olson Vernon S Pankratz Esther M John Alice S Whittemore Dee W West Ute Hamann Diana Torres Hans Ulrich Ulmer Thomas Rüdiger Peter Devilee Robert A E M Tollenaar Caroline Seynaeve Christi J Van Asperen Diana M Eccles William J Tapper Lorraine Durcan Louise Jones Julian Peto Isabel dos-Santos-Silva Olivia Fletcher Nichola Johnson Miriam Dwek Ruth Swann Anita L Bane Gord Glendon Anna M Mulligan Graham G Giles Roger L Milne Laura Baglietto Catriona McLean Jane Carpenter Christine Clarke Rodney Scott Hiltrud Brauch Thomas Brüning Yon-Dschun Ko Angela Cox Simon S Cross Malcolm W R Reed Jan Lubinski Katarzyna Jaworska-Bieniek Katarzyna Durda Jacek Gronwald Thilo Dörk Natalia Bogdanova Tjoung-Won Park-Simon Peter Hillemanns Christopher A Haiman Brian E Henderson Fredrick Schumacher Loic Le Marchand Barbara Burwinkel Frederik Marme Harald Surovy Rongxi Yang Hoda Anton-Culver Argyrios Ziogas Maartje J Hooning J Margriet Collée John W M Martens Madeleine M A Tilanus-Linthorst Hermann Brenner Aida Karina Dieffenbach Volke Arndt Christa Stegmaier Robert Winqvist Katri Pylkäs Arja Jukkola-Vuorinen Mervi Grip Annika Lindblom Sara Margolin Vijai Joseph Mark Robson Rohini Rau-Murthy Anna González-Neira José Ignacio Arias Pilar Zamora Javier Benítez Arto Mannermaa Vesa Kataja Veli-Matti Kosma Jaana M Hartikainen Paolo Peterlongo Daniela Zaffaroni Monica Barile Fabio Capra Paolo Radice Soo H Teo Douglas F Easton Antonis C Antoniou Georgia Chenevix-Trench David E Goldgar

Breast Cancer Res 2014 Dec 23;16(6):3419. Epub 2014 Dec 23.

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http://dx.doi.org/10.1186/s13058-014-0474-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4352262PMC
December 2014

Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade.

Authors:
Kristen S Purrington Seth Slettedahl Manjeet K Bolla Kyriaki Michailidou Kamila Czene Heli Nevanlinna Stig E Bojesen Irene L Andrulis Angela Cox Per Hall Jane Carpenter Drakoulis Yannoukakos Christopher A Haiman Peter A Fasching Arto Mannermaa Robert Winqvist Hermann Brenner Annika Lindblom Georgia Chenevix-Trench Javier Benitez Anthony Swerdlow Vessela Kristensen Pascal Guénel Alfons Meindl Hatef Darabi Mikael Eriksson Rainer Fagerholm Kristiina Aittomäki Carl Blomqvist Børge G Nordestgaard Sune F Nielsen Henrik Flyger Xianshu Wang Curtis Olswold Janet E Olson Anna Marie Mulligan Julia A Knight Sandrine Tchatchou Malcolm W R Reed Simon S Cross Jianjun Liu Jingmei Li Keith Humphreys Christine Clarke Rodney Scott Florentia Fostira George Fountzilas Irene Konstantopoulou Brian E Henderson Fredrick Schumacher Loic Le Marchand Arif B Ekici Arndt Hartmann Matthias W Beckmann Jaana M Hartikainen Veli-Matti Kosma Vesa Kataja Arja Jukkola-Vuorinen Katri Pylkäs Saila Kauppila Aida Karina Dieffenbach Christa Stegmaier Volker Arndt Sara Margolin Rosemary Balleine Jose Ignacio Arias Perez M Pilar Zamora Primitiva Menéndez Alan Ashworth Michael Jones Nick Orr Patrick Arveux Pierre Kerbrat Thérèse Truong Peter Bugert Amanda E Toland Christine B Ambrosone France Labrèche Mark S Goldberg Martine Dumont Argyrios Ziogas Eunjung Lee Gillian S Dite Carmel Apicella Melissa C Southey Jirong Long Martha Shrubsole Sandra Deming-Halverson Filomena Ficarazzi Monica Barile Paolo Peterlongo Katarzyna Durda Katarzyna Jaworska-Bieniek Robert A E M Tollenaar Caroline Seynaeve Thomas Brüning Yon-Dschun Ko Carolien H M Van Deurzen John W M Martens Mieke Kriege Jonine D Figueroa Stephen J Chanock Jolanta Lissowska Ian Tomlinson Michael J Kerin Nicola Miller Andreas Schneeweiss William J Tapper Susan M Gerty Lorraine Durcan Catriona Mclean Roger L Milne Laura Baglietto Isabel dos Santos Silva Olivia Fletcher Nichola Johnson Laura J Van'T Veer Sten Cornelissen Asta Försti Diana Torres Thomas Rüdiger Anja Rudolph Dieter Flesch-Janys Stefan Nickels Caroline Weltens Giuseppe Floris Matthieu Moisse Joe Dennis Qin Wang Alison M Dunning Mitul Shah Judith Brown Jacques Simard Hoda Anton-Culver Susan L Neuhausen John L Hopper Natalia Bogdanova Thilo Dörk Wei Zheng Paolo Radice Anna Jakubowska Jan Lubinski Peter Devillee Hiltrud Brauch Maartje Hooning Montserrat García-Closas Elinor Sawyer Barbara Burwinkel Frederick Marmee Diana M Eccles Graham G Giles Julian Peto Marjanka Schmidt Annegien Broeks Ute Hamann Jenny Chang-Claude Diether Lambrechts Paul D P Pharoah Douglas Easton V Shane Pankratz Susan Slager Celine M Vachon Fergus J Couch

Hum Mol Genet 2014 Nov 13;23(22):6034-46. Epub 2014 Jun 13.

Department of Health Sciences Research, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, USA,

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http://dx.doi.org/10.1093/hmg/ddu300DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4204763PMC
November 2014

Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations.

Authors:
William J Tapper Nicola Foulds Nicholas C P Cross Paula Aranaz Joannah Score Claire Hidalgo-Curtis David O Robinson Jane Gibson Sarah Ennis I Karen Temple Andrew Collins

PLoS One 2014 31;9(1):e86940. Epub 2014 Jan 31.

Department of Human Genetics and Genomic medicine, Faculty of Medicine, University of Southampton, Southampton, Hampshire, United Kingdom.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3908952PMC
October 2014

Therapeutic targeting of integrin αvβ6 in breast cancer.

Authors:
Kate M Moore Gareth J Thomas Stephen W Duffy Jane Warwick Rhian Gabe Patrick Chou Ian O Ellis Andrew R Green Syed Haider Kellie Brouilette Antonio Saha Sabari Vallath Rebecca Bowen Claude Chelala Diana Eccles William J Tapper Alastair M Thompson Phillip Quinlan Lee Jordan Cheryl Gillett Adam Brentnall Shelia Violette Paul H Weinreb Jane Kendrew Simon T Barry Ian R Hart J Louise Jones John F Marshall

J Natl Cancer Inst 2014 Aug 28;106(8). Epub 2014 Jun 28.

Affiliations of authors: Centre for Tumour Biology (KMM, GJT, KB, AS, SV, RB, IRH, JLJ, JFM), Cancer Screening Evaluation Group (SWD, JW, RG, PC), and Molecular Oncology and Imaging (SH, CC), John Vane Science Centre, Barts Cancer Institute, Queen Mary University of London, London, UK; Department of Histopathology, Molecular Medical Sciences, Nottingham City Hospital NHS Trust, Nottingham, UK (IOE, ARG); Cancer Sciences Division, Southampton General Hospital, Southampton, UK (GJT, DE, WJT); Department of Surgery (AMT, PQ) and Department of Pathology (LJ), Ninewells Hospital and Medical School, Dundee, UK; Hedley Atkins Breast Pathology Laboratory, Guy's Hospital, London, UK (CG); Cancer Research UK Centre for Epidemiology, Mathematics and Statistics, Wolfson Institute of Preventative Medicine, Queen Mary University of London, London, UK (AB); Biogen Idec, Cambridge, MA (SV, PHW); Oncology iMED, AstraZeneca, Macclesfield, UK (JK, STB).

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http://dx.doi.org/10.1093/jnci/dju169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4151855PMC
August 2014

2q36.3 is associated with prognosis for oestrogen receptor-negative breast cancer patients treated with chemotherapy.

Authors:
Jingmei Li Linda S Lindström Jia N Foo Sajjad Rafiq Marjanka K Schmidt Paul D P Pharoah Kyriaki Michailidou Joe Dennis Manjeet K Bolla Qin Wang Laura J Van 't Veer Sten Cornelissen Emiel Rutgers Melissa C Southey Carmel Apicella Gillian S Dite John L Hopper Peter A Fasching Lothar Haeberle Arif B Ekici Matthias W Beckmann Carl Blomqvist Taru A Muranen Kristiina Aittomäki Annika Lindblom Sara Margolin Arto Mannermaa Veli-Matti Kosma Jaana M Hartikainen Vesa Kataja Georgia Chenevix-Trench Kelly-Anne Phillips Sue-Anne McLachlan Diether Lambrechts Bernard Thienpont Ann Smeets Hans Wildiers Jenny Chang-Claude Dieter Flesch-Janys Petra Seibold Anja Rudolph Graham G Giles Laura Baglietto Gianluca Severi Christopher A Haiman Brian E Henderson Fredrick Schumacher Loic Le Marchand Vessela Kristensen Grethe I Grenaker Alnæs Anne-Lise Borresen-Dale Silje Nord Robert Winqvist Katri Pylkäs Arja Jukkola-Vuorinen Mervi Grip Irene L Andrulis Julia A Knight Gord Glendon Sandrine Tchatchou Peter Devilee Robert Tollenaar Caroline Seynaeve Maartje Hooning Mieke Kriege Antoinette Hollestelle Ans van den Ouweland Yi Li Ute Hamann Diana Torres Hans U Ulmer Thomas Rüdiger Chen-Yang Shen Chia-Ni Hsiung Pei-Ei Wu Shou-Tung Chen Soo Hwang Teo Nur Aishah Mohd Taib Cheng Har Yip Gwo Fuang Ho Keitaro Matsuo Hidemi Ito Hiroji Iwata Kazuo Tajima Daehee Kang Ji-Yeob Choi Sue K Park Keun-Young Yoo Tom Maishman William J Tapper Alison Dunning Mitul Shah Robert Luben Judith Brown Chiea Chuen Khor Diana M Eccles Heli Nevanlinna Douglas Easton Keith Humphreys Jianjun Liu Per Hall Kamila Czene

Nat Commun 2014 Jun 17;5:4051. Epub 2014 Jun 17.

Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Box 281, 171 77 Stockholm, Sweden.

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http://dx.doi.org/10.1038/ncomms5051DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4082638PMC
June 2014

Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer.

Authors:
Kristen S Purrington Susan Slager Diana Eccles Drakoulis Yannoukakos Peter A Fasching Penelope Miron Jane Carpenter Jenny Chang-Claude Nicholas G Martin Grant W Montgomery Vessela Kristensen Hoda Anton-Culver Paul Goodfellow William J Tapper Sajjad Rafiq Susan M Gerty Lorraine Durcan Irene Konstantopoulou Florentia Fostira Athanassios Vratimos Paraskevi Apostolou Irene Konstanta Vassiliki Kotoula Sotiris Lakis Meletios A Dimopoulos Dimosthenis Skarlos Dimitrios Pectasides George Fountzilas Matthias W Beckmann Alexander Hein Matthias Ruebner Arif B Ekici Arndt Hartmann Ruediger Schulz-Wendtland Stefan P Renner Wolfgang Janni Brigitte Rack Christoph Scholz Julia Neugebauer Ulrich Andergassen Michael P Lux Lothar Haeberle Christine Clarke Nirmala Pathmanathan Anja Rudolph Dieter Flesch-Janys Stefan Nickels Janet E Olson James N Ingle Curtis Olswold Seth Slettedahl Jeanette E Eckel-Passow S Keith Anderson Daniel W Visscher Victoria L Cafourek Hugues Sicotte Naresh Prodduturi Elisabete Weiderpass Leslie Bernstein Argyrios Ziogas Jennifer Ivanovich Graham G Giles Laura Baglietto Melissa Southey Veli-Matti Kosma Hans-Peter Fischer Malcom W R Reed Simon S Cross Sandra Deming-Halverson Martha Shrubsole Qiuyin Cai Xiao-Ou Shu Mary Daly Joellen Weaver Eric Ross Jennifer Klemp Priyanka Sharma Diana Torres Thomas Rüdiger Heidrun Wölfing Hans-Ulrich Ulmer Asta Försti Thaer Khoury Shicha Kumar Robert Pilarski Charles L Shapiro Dario Greco Päivi Heikkilä Kristiina Aittomäki Carl Blomqvist Astrid Irwanto Jianjun Liu Vernon Shane Pankratz Xianshu Wang Gianluca Severi Arto Mannermaa Douglas Easton Per Hall Hiltrud Brauch Angela Cox Wei Zheng Andrew K Godwin Ute Hamann Christine Ambrosone Amanda Ewart Toland Heli Nevanlinna Celine M Vachon Fergus J Couch

Carcinogenesis 2014 May 9;35(5):1012-9. Epub 2013 Dec 9.

Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1093/carcin/bgt404DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4004200PMC
May 2014

Support Vector Machine classifier for estrogen receptor positive and negative early-onset breast cancer.

Authors:
Rosanna Upstill-Goddard Diana Eccles Sarah Ennis Sajjad Rafiq William Tapper Joerg Fliege Andrew Collins

PLoS One 2013 19;8(7):e68606. Epub 2013 Jul 19.

Human Genetics and Cancer Sciences, Faculty of Medicine, University of Southampton, Southampton, United Kingdom.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3716652PMC
March 2014

Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes.

Authors:
Katja Christodoulou Anthony E Wiskin Jane Gibson William Tapper Claire Willis Nadeem A Afzal Rosanna Upstill-Goddard John W Holloway Michael A Simpson R Mark Beattie Andrew Collins Sarah Ennis

Gut 2013 Jul 28;62(7):977-84. Epub 2012 Apr 28.

Genetic Epidemiology and Genomic Informatics Group, Human Genetics & Genomic Medicine, University of Southampton, University Hospital Southampton NHS Foundation Trust, Southampton, UK.

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http://dx.doi.org/10.1136/gutjnl-2011-301833DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3686259PMC
July 2013

Identification of inherited genetic variations influencing prognosis in early-onset breast cancer.

Authors:
Sajjad Rafiq William Tapper Andrew Collins Sofia Khan Ioannis Politopoulos Sue Gerty Carl Blomqvist Fergus J Couch Heli Nevanlinna Jianjun Liu Diana Eccles

Cancer Res 2013 Mar 14;73(6):1883-91. Epub 2013 Jan 14.

Genetic Epidemiology and Bioinformatics Research Group, Human Genetics Research Division, University of Southampton School of Medicine, Southampton General Hospital, United Kingdom.

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http://dx.doi.org/10.1158/0008-5472.CAN-12-3377DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3601979PMC
March 2013

Exome-based linkage disequilibrium maps of individual genes: functional clustering and relationship to disease.

Authors:
Jane Gibson William Tapper Sarah Ennis Andrew Collins

Hum Genet 2013 Feb 4;132(2):233-43. Epub 2012 Nov 4.

Genetic Epidemiology and Genomic informatics Group, Human Genetics, University of Southampton, Southampton General Hospital, Southampton, UK.

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http://link.springer.com/10.1007/s00439-012-1243-6
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http://dx.doi.org/10.1007/s00439-012-1243-6DOI Listing
February 2013

Recurrent SETBP1 mutations in atypical chronic myeloid leukemia.

Authors:
Rocco Piazza Simona Valletta Nils Winkelmann Sara Redaelli Roberta Spinelli Alessandra Pirola Laura Antolini Luca Mologni Carla Donadoni Elli Papaemmanuil Susanne Schnittger Dong-Wook Kim Jacqueline Boultwood Fabio Rossi Giuseppe Gaipa Greta P De Martini Paola Francia di Celle Hyun Gyung Jang Valeria Fantin Graham R Bignell Vera Magistroni Torsten Haferlach Enrico Maria Pogliani Peter J Campbell Andrew J Chase William J Tapper Nicholas C P Cross Carlo Gambacorti-Passerini

Nat Genet 2013 Jan 9;45(1):18-24. Epub 2012 Dec 9.

Department of Health Sciences, University of Milano-Bicocca, Monza, Italy.

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http://dx.doi.org/10.1038/ng.2495DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3588142PMC
January 2013

A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11.

Authors:
Afshan Siddiq Fergus J Couch Gary K Chen Sara Lindström Diana Eccles Robert C Millikan Kyriaki Michailidou Daniel O Stram Lars Beckmann Suhn Kyong Rhie Christine B Ambrosone Kristiina Aittomäki Pilar Amiano Carmel Apicella Laura Baglietto Elisa V Bandera Matthias W Beckmann Christine D Berg Leslie Bernstein Carl Blomqvist Hiltrud Brauch Louise Brinton Quang M Bui Julie E Buring Saundra S Buys Daniele Campa Jane E Carpenter Daniel I Chasman Jenny Chang-Claude Constance Chen Françoise Clavel-Chapelon Angela Cox Simon S Cross Kamila Czene Sandra L Deming Robert B Diasio W Ryan Diver Alison M Dunning Lorraine Durcan Arif B Ekici Peter A Fasching Heather Spencer Feigelson Laura Fejerman Jonine D Figueroa Olivia Fletcher Dieter Flesch-Janys Mia M Gaudet Susan M Gerty Jorge L Rodriguez-Gil Graham G Giles Carla H van Gils Andrew K Godwin Nikki Graham Dario Greco Per Hall Susan E Hankinson Arndt Hartmann Rebecca Hein Judith Heinz Robert N Hoover John L Hopper Jennifer J Hu Scott Huntsman Sue A Ingles Astrid Irwanto Claudine Isaacs Kevin B Jacobs Esther M John Christina Justenhoven Rudolf Kaaks Laurence N Kolonel Gerhard A Coetzee Mark Lathrop Loic Le Marchand Adam M Lee I-Min Lee Timothy Lesnick Peter Lichtner Jianjun Liu Eiliv Lund Enes Makalic Nicholas G Martin Catriona A McLean Hanne Meijers-Heijboer Alfons Meindl Penelope Miron Kristine R Monroe Grant W Montgomery Bertram Müller-Myhsok Stefan Nickels Sarah J Nyante Curtis Olswold Kim Overvad Domenico Palli Daniel J Park Julie R Palmer Harsh Pathak Julian Peto Paul Pharoah Nazneen Rahman Fernando Rivadeneira Daniel F Schmidt Rita K Schmutzler Susan Slager Melissa C Southey Kristen N Stevens Hans-Peter Sinn Michael F Press Eric Ross Elio Riboli Paul M Ridker Fredrick R Schumacher Gianluca Severi Isabel Dos Santos Silva Jennifer Stone Malin Sund William J Tapper Michael J Thun Ruth C Travis Clare Turnbull Andre G Uitterlinden Quinten Waisfisz Xianshu Wang Zhaoming Wang Joellen Weaver Rüdiger Schulz-Wendtland Lynne R Wilkens David Van Den Berg Wei Zheng Regina G Ziegler Elad Ziv Heli Nevanlinna Douglas F Easton David J Hunter Brian E Henderson Stephen J Chanock Montserrat Garcia-Closas Peter Kraft Christopher A Haiman Celine M Vachon

Hum Mol Genet 2012 Dec 13;21(24):5373-84. Epub 2012 Sep 13.

Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London, London, UK.

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https://academic.oup.com/hmg/article/21/24/5373/665552
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http://dx.doi.org/10.1093/hmg/dds381DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3510753PMC
December 2012

Mapping of chromosome 1p deletions in myeloma identifies FAM46C at 1p12 and CDKN2C at 1p32.3 as being genes in regions associated with adverse survival.

Authors:
Kevin D Boyd Fiona M Ross Brian A Walker Christopher P Wardell William J Tapper Laura Chiecchio Gianpaolo Dagrada Zoe J Konn Walter M Gregory Graham H Jackson J Anthony Child Faith E Davies Gareth J Morgan

Clin Cancer Res 2011 Dec 12;17(24):7776-84. Epub 2011 Oct 12.

The Institute of Cancer Research, Haemato-oncology Research Unit, Division of Molecular Pathology, London, United Kingdom.

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http://dx.doi.org/10.1158/1078-0432.CCR-11-1791DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5751883PMC
December 2011

Common breast cancer susceptibility loci are associated with triple-negative breast cancer.

Authors:
Kristen N Stevens Celine M Vachon Adam M Lee Susan Slager Timothy Lesnick Curtis Olswold Peter A Fasching Penelope Miron Diana Eccles Jane E Carpenter Andrew K Godwin Christine Ambrosone Robert Winqvist Hiltrud Brauch Marjanka K Schmidt Angela Cox Simon S Cross Elinor Sawyer Arndt Hartmann Matthias W Beckmann Rüdiger Schulz-Wendtland Arif B Ekici William J Tapper Susan M Gerty Lorraine Durcan Nikki Graham Rebecca Hein Stephan Nickels Dieter Flesch-Janys Judith Heinz Hans-Peter Sinn Irene Konstantopoulou Florentia Fostira Dimitrios Pectasides Athanasios M Dimopoulos George Fountzilas Christine L Clarke Rosemary Balleine Janet E Olson Zachary Fredericksen Robert B Diasio Harsh Pathak Eric Ross JoEllen Weaver Thomas Rüdiger Asta Försti Thomas Dünnebier Foluso Ademuyiwa Swati Kulkarni Katri Pylkäs Arja Jukkola-Vuorinen Yon-Dschun Ko Erik Van Limbergen Hilde Janssen Julian Peto Olivia Fletcher Graham G Giles Laura Baglietto Senno Verhoef Ian Tomlinson Veli-Matti Kosma Jonathan Beesley Dario Greco Carl Blomqvist Astrid Irwanto Jianjun Liu Fiona M Blows Sarah-Jane Dawson Sara Margolin Arto Mannermaa Nicholas G Martin Grant W Montgomery Diether Lambrechts Isabel dos Santos Silva Gianluca Severi Ute Hamann Paul Pharoah Douglas F Easton Jenny Chang-Claude Drakoulis Yannoukakos Heli Nevanlinna Xianshu Wang Fergus J Couch

Cancer Res 2011 Oct 15;71(19):6240-9. Epub 2011 Aug 15.

Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota 55905, USA.

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http://dx.doi.org/10.1158/0008-5472.CAN-11-1266DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3327299PMC
October 2011

The clinical impact and molecular biology of del(17p) in multiple myeloma treated with conventional or thalidomide-based therapy.

Authors:
Kevin D Boyd Fiona M Ross William J Tapper Laura Chiecchio GianPaolo Dagrada Zoe J Konn David Gonzalez Brian A Walker Sarah L Hockley Christopher P Wardell Walter M Gregory J Anthony Child Graham H Jackson Faith E Davies Gareth J Morgan

Genes Chromosomes Cancer 2011 10;50(10):765-74

The Institute of Cancer Research, Section of Haemato-Oncology, London, United Kingdom.

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October 2011

A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer.

Authors:
Christopher A Haiman Gary K Chen Celine M Vachon Federico Canzian Alison Dunning Robert C Millikan Xianshu Wang Foluso Ademuyiwa Shahana Ahmed Christine B Ambrosone Laura Baglietto Rosemary Balleine Elisa V Bandera Matthias W Beckmann Christine D Berg Leslie Bernstein Carl Blomqvist William J Blot Hiltrud Brauch Julie E Buring Lisa A Carey Jane E Carpenter Jenny Chang-Claude Stephen J Chanock Daniel I Chasman Christine L Clarke Angela Cox Simon S Cross Sandra L Deming Robert B Diasio Athanasios M Dimopoulos W Ryan Driver Thomas Dünnebier Lorraine Durcan Diana Eccles Christopher K Edlund Arif B Ekici Peter A Fasching Heather S Feigelson Dieter Flesch-Janys Florentia Fostira Asta Försti George Fountzilas Susan M Gerty Graham G Giles Andrew K Godwin Paul Goodfellow Nikki Graham Dario Greco Ute Hamann Susan E Hankinson Arndt Hartmann Rebecca Hein Judith Heinz Andrea Holbrook Robert N Hoover Jennifer J Hu David J Hunter Sue A Ingles Astrid Irwanto Jennifer Ivanovich Esther M John Nicola Johnson Arja Jukkola-Vuorinen Rudolf Kaaks Yon-Dschun Ko Laurence N Kolonel Irene Konstantopoulou Veli-Matti Kosma Swati Kulkarni Diether Lambrechts Adam M Lee Loïc Le Marchand Timothy Lesnick Jianjun Liu Sara Lindstrom Arto Mannermaa Sara Margolin Nicholas G Martin Penelope Miron Grant W Montgomery Heli Nevanlinna Stephan Nickels Sarah Nyante Curtis Olswold Julie Palmer Harsh Pathak Dimitrios Pectasides Charles M Perou Julian Peto Paul D P Pharoah Loreall C Pooler Michael F Press Katri Pylkäs Timothy R Rebbeck Jorge L Rodriguez-Gil Lynn Rosenberg Eric Ross Thomas Rüdiger Isabel dos Santos Silva Elinor Sawyer Marjanka K Schmidt Rüdiger Schulz-Wendtland Fredrick Schumacher Gianluca Severi Xin Sheng Lisa B Signorello Hans-Peter Sinn Kristen N Stevens Melissa C Southey William J Tapper Ian Tomlinson Frans B L Hogervorst Els Wauters JoEllen Weaver Hans Wildiers Robert Winqvist David Van Den Berg Peggy Wan Lucy Y Xia Drakoulis Yannoukakos Wei Zheng Regina G Ziegler Afshan Siddiq Susan L Slager Daniel O Stram Douglas Easton Peter Kraft Brian E Henderson Fergus J Couch

Nat Genet 2011 Oct 30;43(12):1210-4. Epub 2011 Oct 30.

Department of Preventive Medicine, Keck School of Medicine, University of Southern California/Norris Comprehensive Cancer Center, Los Angeles, USA.

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http://dx.doi.org/10.1038/ng.985DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3279120PMC
October 2011

Gender disparities in the tumor genetics and clinical outcome of multiple myeloma.

Authors:
Kevin D Boyd Fiona M Ross Laura Chiecchio GianPaolo Dagrada Zoe J Konn William J Tapper Brian A Walker Christopher P Wardell Walter M Gregory Alex J Szubert Faith E Davies Gareth J Morgan

Cancer Epidemiol Biomarkers Prev 2011 Aug 15;20(8):1703-7. Epub 2011 Jun 15.

The Institute of Cancer Research, Section of Haemato-Oncology, London, United Kingdom.

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http://dx.doi.org/10.1158/1055-9965.EPI-11-0157DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4545514PMC
August 2011

Composite likelihood-based meta-analysis of breast cancer association studies.

Authors:
Ioannis Politopoulos Jane Gibson William Tapper Sarah Ennis Diana Eccles Andrew Collins

J Hum Genet 2011 May 10;56(5):377-82. Epub 2011 Mar 10.

Genetic Epidemiology and Bioinformatics Research Group, Human Genetics Research Division, University of Southampton, School of Medicine, Southampton General Hospital, Hampshire, UK.

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http://dx.doi.org/10.1038/jhg.2011.23DOI Listing
May 2011

Genome variation: a review of Web resources.

Authors:
Andrew Collins William J Tapper

Methods Mol Biol 2011 ;713:129-39

Human Genetics Research Division, University of Southampton, Southampton, UK.

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http://dx.doi.org/10.1007/978-1-60327-416-6_10DOI Listing
March 2011

Genome-wide association of breast cancer: composite likelihood with imputed genotypes.

Authors:
Ioannis Politopoulos Jane Gibson William Tapper Sarah Ennis Diana Eccles Andrew Collins

Eur J Hum Genet 2011 Feb 20;19(2):194-9. Epub 2010 Oct 20.

Genetic Epidemiology and Bioinformatics Research Group, Human Genetics Research Division, University of Southampton, School of Medicine, Southampton General Hospital, Hants, UK.

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http://www.nature.com/articles/ejhg2010157
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http://dx.doi.org/10.1038/ejhg.2010.157DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3025787PMC
February 2011

Associations of breast cancer risk factors with tumor subtypes: a pooled analysis from the Breast Cancer Association Consortium studies.

Authors:
Xiaohong R Yang Jenny Chang-Claude Ellen L Goode Fergus J Couch Heli Nevanlinna Roger L Milne Mia Gaudet Marjanka K Schmidt Annegien Broeks Angela Cox Peter A Fasching Rebecca Hein Amanda B Spurdle Fiona Blows Kristy Driver Dieter Flesch-Janys Judith Heinz Peter Sinn Alina Vrieling Tuomas Heikkinen Kristiina Aittomäki Päivi Heikkilä Carl Blomqvist Jolanta Lissowska Beata Peplonska Stephen Chanock Jonine Figueroa Louise Brinton Per Hall Kamila Czene Keith Humphreys Hatef Darabi Jianjun Liu Laura J Van 't Veer Flora E van Leeuwen Irene L Andrulis Gord Glendon Julia A Knight Anna Marie Mulligan Frances P O'Malley Nayana Weerasooriya Esther M John Matthias W Beckmann Arndt Hartmann Sebastian B Weihbrecht David L Wachter Sebastian M Jud Christian R Loehberg Laura Baglietto Dallas R English Graham G Giles Catriona A McLean Gianluca Severi Diether Lambrechts Thijs Vandorpe Caroline Weltens Robert Paridaens Ann Smeets Patrick Neven Hans Wildiers Xianshu Wang Janet E Olson Victoria Cafourek Zachary Fredericksen Matthew Kosel Celine Vachon Helen E Cramp Daniel Connley Simon S Cross Sabapathy P Balasubramanian Malcolm W R Reed Thilo Dörk Michael Bremer Andreas Meyer Johann H Karstens Aysun Ay Tjoung-Won Park-Simon Peter Hillemanns Jose Ignacio Arias Pérez Primitiva Menéndez Rodríguez Pilar Zamora Javier Benítez Yon-Dschun Ko Hans-Peter Fischer Ute Hamann Beate Pesch Thomas Brüning Christina Justenhoven Hiltrud Brauch Diana M Eccles William J Tapper Sue M Gerty Elinor J Sawyer Ian P Tomlinson Angela Jones Michael Kerin Nicola Miller Niall McInerney Hoda Anton-Culver Argyrios Ziogas Chen-Yang Shen Chia-Ni Hsiung Pei-Ei Wu Show-Lin Yang Jyh-Cherng Yu Shou-Tung Chen Giu-Cheng Hsu Christopher A Haiman Brian E Henderson Loic Le Marchand Laurence N Kolonel Annika Lindblom Sara Margolin Anna Jakubowska Jan Lubiński Tomasz Huzarski Tomasz Byrski Bohdan Górski Jacek Gronwald Maartje J Hooning Antoinette Hollestelle Ans M W van den Ouweland Agnes Jager Mieke Kriege Madeleine M A Tilanus-Linthorst Margriet Collée Shan Wang-Gohrke Katri Pylkäs Arja Jukkola-Vuorinen Kari Mononen Mervi Grip Pasi Hirvikoski Robert Winqvist Arto Mannermaa Veli-Matti Kosma Jaana Kauppinen Vesa Kataja Päivi Auvinen Ylermi Soini Reijo Sironen Stig E Bojesen David Dynnes Ørsted Diljit Kaur-Knudsen Henrik Flyger Børge G Nordestgaard Helene Holland Georgia Chenevix-Trench Siranoush Manoukian Monica Barile Paolo Radice Susan E Hankinson David J Hunter Rulla Tamimi Suleeporn Sangrajrang Paul Brennan James McKay Fabrice Odefrey Valerie Gaborieau Peter Devilee P E A Huijts R A E M Tollenaar C Seynaeve Gillian S Dite Carmel Apicella John L Hopper Fleur Hammet Helen Tsimiklis Letitia D Smith Melissa C Southey Manjeet K Humphreys Douglas Easton Paul Pharoah Mark E Sherman Montserrat Garcia-Closas

J Natl Cancer Inst 2011 Feb 29;103(3):250-63. Epub 2010 Dec 29.

Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Sciences, Rockville, MD 20852, USA.

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http://dx.doi.org/10.1093/jnci/djq526DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3107570PMC
February 2011

Heterogeneity in the prognostic significance of 12p deletion and chromosome 5 amplification in multiple myeloma.

Authors:
William Tapper Laura Chiecchio Gian Paolo Dagrada Zoe J Konn David M Stockley Alex J Szubert Walter M Gregory Susan E Bell Graham H Jackson J Anthony Child Gareth J Morgan Fiona M Ross

J Clin Oncol 2011 Jan 6;29(2):e37-9; author reply e40-1. Epub 2010 Dec 6.

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http://dx.doi.org/10.1200/JCO.2010.31.0516DOI Listing
January 2011

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.

Authors:
Antonis C Antoniou Xianshu Wang Zachary S Fredericksen Lesley McGuffog Robert Tarrell Olga M Sinilnikova Sue Healey Jonathan Morrison Christiana Kartsonaki Timothy Lesnick Maya Ghoussaini Daniel Barrowdale Susan Peock Margaret Cook Clare Oliver Debra Frost Diana Eccles D Gareth Evans Ros Eeles Louise Izatt Carol Chu Fiona Douglas Joan Paterson Dominique Stoppa-Lyonnet Claude Houdayer Sylvie Mazoyer Sophie Giraud Christine Lasset Audrey Remenieras Olivier Caron Agnès Hardouin Pascaline Berthet Frans B L Hogervorst Matti A Rookus Agnes Jager Ans van den Ouweland Nicoline Hoogerbrugge Rob B van der Luijt Hanne Meijers-Heijboer Encarna B Gómez García Peter Devilee Maaike P G Vreeswijk Jan Lubinski Anna Jakubowska Jacek Gronwald Tomasz Huzarski Tomasz Byrski Bohdan Górski Cezary Cybulski Amanda B Spurdle Helene Holland David E Goldgar Esther M John John L Hopper Melissa Southey Saundra S Buys Mary B Daly Mary-Beth Terry Rita K Schmutzler Barbara Wappenschmidt Christoph Engel Alfons Meindl Sabine Preisler-Adams Norbert Arnold Dieter Niederacher Christian Sutter Susan M Domchek Katherine L Nathanson Timothy Rebbeck Joanne L Blum Marion Piedmonte Gustavo C Rodriguez Katie Wakeley John F Boggess Jack Basil Stephanie V Blank Eitan Friedman Bella Kaufman Yael Laitman Roni Milgrom Irene L Andrulis Gord Glendon Hilmi Ozcelik Tomas Kirchhoff Joseph Vijai Mia M Gaudet David Altshuler Candace Guiducci Niklas Loman Katja Harbst Johanna Rantala Hans Ehrencrona Anne-Marie Gerdes Mads Thomassen Lone Sunde Paolo Peterlongo Siranoush Manoukian Bernardo Bonanni Alessandra Viel Paolo Radice Trinidad Caldes Miguel de la Hoya Christian F Singer Anneliese Fink-Retter Mark H Greene Phuong L Mai Jennifer T Loud Lucia Guidugli Noralane M Lindor Thomas V O Hansen Finn C Nielsen Ignacio Blanco Conxi Lazaro Judy Garber Susan J Ramus Simon A Gayther Catherine Phelan Stephen Narod Csilla I Szabo Javier Benitez Ana Osorio Heli Nevanlinna Tuomas Heikkinen Maria A Caligo Mary S Beattie Ute Hamann Andrew K Godwin Marco Montagna Cinzia Casella Susan L Neuhausen Beth Y Karlan Nadine Tung Amanda E Toland Jeffrey Weitzel Olofunmilayo Olopade Jacques Simard Penny Soucy Wendy S Rubinstein Adalgeir Arason Gad Rennert Nicholas G Martin Grant W Montgomery Jenny Chang-Claude Dieter Flesch-Janys Hiltrud Brauch Gianluca Severi Laura Baglietto Angela Cox Simon S Cross Penelope Miron Sue M Gerty William Tapper Drakoulis Yannoukakos George Fountzilas Peter A Fasching Matthias W Beckmann Isabel Dos Santos Silva Julian Peto Diether Lambrechts Robert Paridaens Thomas Rüdiger Asta Försti Robert Winqvist Katri Pylkäs Robert B Diasio Adam M Lee Jeanette Eckel-Passow Celine Vachon Fiona Blows Kristy Driver Alison Dunning Paul P D Pharoah Kenneth Offit V Shane Pankratz Hakon Hakonarson Georgia Chenevix-Trench Douglas F Easton Fergus J Couch

Nat Genet 2010 Oct 19;42(10):885-92. Epub 2010 Sep 19.

Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.

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http://dx.doi.org/10.1038/ng.669DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3130795PMC
October 2010

The influence of common polymorphisms on breast cancer.

Authors:
Diana Eccles William Tapper

Cancer Treat Res 2010 ;155:15-32

Human Genetics Division, School of Medicine, University of Southampton, Southampton University Hospitals NHS Trust, Southampton, SO16 6YD, UK.

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http://dx.doi.org/10.1007/978-1-4419-6033-7_2DOI Listing
September 2010

The JAK2 46/1 haplotype predisposes to MPL-mutated myeloproliferative neoplasms.

Authors:
Amy V Jones Peter J Campbell Philip A Beer Susanne Schnittger Alessandro M Vannucchi Katerina Zoi Melanie J Percy Mary Frances McMullin Linda M Scott William Tapper Richard T Silver David Oscier Claire N Harrison Harald Grallert Aliaksei Kisialiou Paul Strike Andrew J Chase Anthony R Green Nicholas C P Cross

Blood 2010 Jun 19;115(22):4517-23. Epub 2010 Mar 19.

Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, United Kingdom.

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http://dx.doi.org/10.1182/blood-2009-08-236448DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3145114PMC
June 2010

Genome-wide association study identifies five new breast cancer susceptibility loci.

Authors:
Clare Turnbull Shahana Ahmed Jonathan Morrison David Pernet Anthony Renwick Mel Maranian Sheila Seal Maya Ghoussaini Sarah Hines Catherine S Healey Deborah Hughes Margaret Warren-Perry William Tapper Diana Eccles D Gareth Evans Maartje Hooning Mieke Schutte Ans van den Ouweland Richard Houlston Gillian Ross Cordelia Langford Paul D P Pharoah Michael R Stratton Alison M Dunning Nazneen Rahman Douglas F Easton

Nat Genet 2010 Jun 9;42(6):504-7. Epub 2010 May 9.

Section of Cancer Genetics, The Institute of Cancer Research, Sutton, Surrey, UK.

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http://dx.doi.org/10.1038/ng.586DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3632836PMC
June 2010

Genetic Analysis Workshop 15: gene expression analysis and approaches to detecting multiple functional loci.

Authors:
Heather J Cordell Mariza de Andrade Marie-Claude Babron Christopher W Bartlett Joseph Beyene Heike Bickeböller Robert Culverhouse L Adrienne Cupples E Warwick Daw Josée Dupuis Catherine T Falk Saurabh Ghosh Katrina A Goddard Ellen L Goode Elizabeth R Hauser Lisa J Martin Maria Martinez Kari E North Nancy L Saccone Silke Schmidt William Tapper Duncan Thomas David Tritchler Veronica J Vieland Ellen M Wijsman Marsha A Wilcox John S Witte Qiong Yang Andreas Ziegler Laura Almasy Jean W Maccluer

BMC Proc 2007 18;1 Suppl 1:S1. Epub 2007 Dec 18.

Institute of Human Genetics, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2367529PMC
http://dx.doi.org/10.1186/1753-6561-1-s1-s1DOI Listing
December 2009

Mapping a gene for rheumatoid arthritis on chromosome 18q21.

Authors:
William Tapper Andrew Collins Newton E Morton

BMC Proc 2007 18;1 Suppl 1:S18. Epub 2007 Dec 18.

Human Genetics Division, University of Southampton, Southampton General Hospital, Tremona Road, Southampton, Hampshire SO16 6YD, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2367616PMC
http://dx.doi.org/10.1186/1753-6561-1-s1-s18DOI Listing
December 2009

The influence of genetic variation in 30 selected genes on the clinical characteristics of early onset breast cancer.

Authors:
William Tapper Victoria Hammond Sue Gerty Sarah Ennis Peter Simmonds Andrew Collins Diana Eccles

Breast Cancer Res 2008 18;10(6):R108. Epub 2008 Dec 18.

Human Genetics and Cancer Sciences Divisions, School of Medicine, Southampton General Hospital, University of Southampton, Southampton, SO16 6YD, UK.

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http://dx.doi.org/10.1186/bcr2213DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2656905PMC
April 2009

Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosis.

Authors:
Rodney D Gilbert Claire L S Turner Jane Gibson Paul S Bass Mushfequr R Haq Esta Cross David J Bunyan Andrew R Collins William J Tapper Juliet C Needell Beverley Dell Newton E Morton I Karen Temple David O Robinson

Kidney Int 2009 Feb 26;75(4):415-9. Epub 2008 Nov 26.

Wessex Regional Paediatric Nephro-Urology Service, Southampton General Hospital, Southampton, UK.

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http://dx.doi.org/10.1038/ki.2008.573DOI Listing
February 2009

A comparison of methods to detect recombination hotspots.

Authors:
William Tapper Jane Gibson Newton E Morton Andrew Collins

Hum Hered 2008 14;66(3):157-69. Epub 2008 Apr 14.

Human Genetics Division, School of Medicine, Southampton General Hospital, University of Southampton, Southampton, UK.

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http://dx.doi.org/10.1159/000126050DOI Listing
August 2008

A multimetric approach to analysis of genome-wide association by single markers and composite likelihood.

Authors:
Jane Gibson William Tapper David Cox Weihua Zhang Arne Pfeufer Christian Gieger H-Erich Wichmann Stefan Kääb Andrew R Collins Thomas Meitinger Newton Morton

Proc Natl Acad Sci U S A 2008 Feb 11;105(7):2592-7. Epub 2008 Feb 11.

Human Genetics Division, School of Medicine, University of Southampton, Southampton SO16 6YD, United Kingdom.

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http://www.pnas.org/cgi/doi/10.1073/pnas.0711903105
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http://dx.doi.org/10.1073/pnas.0711903105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2268181PMC
February 2008

Linkage disequilibrium maps and location databases.

Authors:
William Tapper

Methods Mol Biol 2007 ;376:23-45

Human Genetics Division, Southampton General Hospital, UK.

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http://dx.doi.org/10.1007/978-1-59745-389-9_3DOI Listing
December 2007

Exploiting large scale computing to construct high resolution linkage disequilibrium maps of the human genome.

Authors:
Winston Lau Tai-Yue Kuo William Tapper Simon Cox Andrew Collins

Bioinformatics 2007 Feb 1;23(4):517-9. Epub 2006 Dec 1.

Human Genetics Division, Duthie Building (Mailpoint 808), Southampton General Hospital, Tremona Road, Southampton SO16 6YD, UK.

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http://dx.doi.org/10.1093/bioinformatics/btl615DOI Listing
February 2007

Cosmopolitan linkage disequilibrium maps.

Authors:
Jane Gibson William Tapper Weihua Zhang Newton Morton Andrew Collins

Hum Genomics 2005 Mar;2(1):20-7

Department of Human Genetics, School of Medicine, University of Southampton, Southampton, SO16 6YD, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3525119PMC
March 2005

Impact of population structure, effective bottleneck time, and allele frequency on linkage disequilibrium maps.

Authors:
Weihua Zhang Andrew Collins Jane Gibson William J Tapper Sarah Hunt Panos Deloukas David R Bentley Newton E Morton

Proc Natl Acad Sci U S A 2004 Dec 16;101(52):18075-80. Epub 2004 Dec 16.

Human Genetics Division, Duthie Building (Mailpoint 808), Southampton General Hospital, Tremona Road, Southampton SO16 6YD, United Kingdom.

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http://dx.doi.org/10.1073/pnas.0408251102DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC539799PMC
December 2004

Positional cloning by linkage disequilibrium.

Authors:
Nikolas Maniatis Andrew Collins Jane Gibson Weihua Zhang William Tapper Newton E Morton

Am J Hum Genet 2004 May 26;74(5):846-55. Epub 2004 Mar 26.

Human Genetics Division, University of Southampton, Southampton SO16 6YD, United Kingdom.

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http://dx.doi.org/10.1086/383589DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1181979PMC
May 2004

The impact of SNP density on fine-scale patterns of linkage disequilibrium.

Authors:
Xiayi Ke Sarah Hunt William Tapper Robert Lawrence George Stavrides Jilur Ghori Pamela Whittaker Andrew Collins Andrew P Morris David Bentley Lon R Cardon Panos Deloukas

Hum Mol Genet 2004 Mar 20;13(6):577-88. Epub 2004 Jan 20.

Wellcome Trust Centre for Human Genetics, University of Oxford, UK.

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http://dx.doi.org/10.1093/hmg/ddh060DOI Listing
March 2004

Independent effects of the -219 G>T and epsilon 2/ epsilon 3/ epsilon 4 polymorphisms in the apolipoprotein E gene on coronary artery disease: the Southampton Atherosclerosis Study.

Authors:
Shu Ye Louise Dunleavey Wendy Bannister Lorna B Day William Tapper Andrew R Collins Ian N M Day Iain Simpson

Eur J Hum Genet 2003 Jun;11(6):437-43

Human Genetics Division, University of Southampton School of Medicine, Southampton SO16 6YD, UK.

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http://www.nature.com/articles/5200983
Publisher Site
http://dx.doi.org/10.1038/sj.ejhg.5200983DOI Listing
June 2003

Linkage disequilibrium in human populations.

Authors:
Christine Lonjou Weihua Zhang Andrew Collins William J Tapper Eiram Elahi Nikolas Maniatis Newton E Morton

Proc Natl Acad Sci U S A 2003 May 29;100(10):6069-74. Epub 2003 Apr 29.

Human Genetics Division, University of Southampton, Duthie Building (MP 808), Southampton General Hospital, Tremona Road, Southampton SO16 6YD, United Kingdom.

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http://dx.doi.org/10.1073/pnas.1031521100DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC156327PMC
May 2003

Haplotypic analysis of the MMP-9 gene in relation to coronary artery disease.

Authors:
Angharad R Morgan Baiping Zhang William Tapper Andrew Collins Shu Ye

J Mol Med (Berl) 2003 May 1;81(5):321-6. Epub 2003 May 1.

Human Genetics Division, School of Medicine, University of Southampton, Southampton General Hospital, Tremona Road, Southampton, SO16 6YD, UK.

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http://dx.doi.org/10.1007/s00109-003-0441-zDOI Listing
May 2003

Properties of linkage disequilibrium (LD) maps.

Authors:
Weilhua Zhang Andrew Collins Nikolas Maniatis William Tapper Newton E Morton

Proc Natl Acad Sci U S A 2002 Dec 16;99(26):17004-7. Epub 2002 Dec 16.

Human Genetics Division, University of Southampton, Southampton SO16 6YD, United Kingdom.

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http://dx.doi.org/10.1073/pnas.012672899DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC139259PMC
December 2002